Poster Sessions Listing

Reviewers' Choice Abstracts  

 

Genome Structure and Function

 

373W    Cell-type specific expression of circular RNAs in human pancreatic islets. S. Kaur.

374T    Fast calling of copy number variants from population scale high-depth whole genome sequencing. A. Gilly.

375F    Genome-scale sequencing to study the contribution of structural variation to human complex traits. K. Walter.

376W    Defective gene splicing with mutant alleles of the ankyrin 1 aene isolated from patients with hereditary spherocytosis. V. Alencar.

377T    TRBV polymorphism predicts adverse events during checkpoint blockade immunotherapy. T. Looney.

378F    Gene diversity of immunoglobulin variable domains among three ethnic groups in Nigeria: Implication for HIV vaccine development. R.A. Ahmed.

379W    Mosaic events in 181,022 Japanese individuals provide novel molecular insights into clonal hematopoiesis and hematopoietic malignancy. C. Terao.

380T    USP8-wildtype pituitary corticotroph tumors harbor recurrent TP53 somatic mutations and have a distinct aneuploid molecular subtype compared to USP8-mutated tumors. K. Ying.

381F    Changes in 3D genome architecture following chondrocyte differentiation as a model to understand skeletal disorders. I. Song.

382W    The impact of mycobacterial antigen stimulation on isoform expression in whole blood. W. Correa-Macedo.

383T    TREM2 expression differs by cell type and genetic content. R. Akhter.

384F    Copy number and structural variants in the Autism Speaks MSSNG Whole Genome Sequencing Resource. S. Walker.

385W    Haplotype resolved analysis and improved genome coverage with Linked-Reads. S.R. Williams.

386T    Analysis of rare coding variants in ALS C9orf72 hexanucleotide repeat expansion carriers. A. Chubick.

387F    Chemical chaperone screening for Pelizaeus-Merzbacher disease. T. Kouga.

388W    High-throughput repeat expansion sequencing on PromethION: An ABCA7 VNTR case study. A. De Roeck.

389T    Targeted enrichment and long-read sequencing to genotype medically-relevant genes that cannot be assayed using short-read technologies. A. Wallace.

390F    The 15q11.2 BP1–BP2 microduplications are enriched in patients with anorexia nervosa. X. Chang.

391W    Characterization of obesity in individuals with 16p11.2 deletions using electronic health record derived phenotypes in the DiscovEHR cohort. A.E. Hare-Harris.

392T    Non-coding structural variation in whole genome sequencing data impacts attention-deficit hyperactivity disorder (ADHD) and reveals population differences between African American and Caucasian ADHD Children. Y. Liu.

393F    Modeling regional rates of structural mutation and selection in the human genome. P. Tandon.

394W    Detecting inversion polymorphisms at population scale with linked read sequencing. C.W. Whelan.

395T    Prenatal and postnatal molecular characterization by whole genome sequencing (WGS) of de novo structural variations (SVs). P. Callier.

396F    A multi-genic model accounts for the pathogenicity of variably expressive CNVs. M. Jensen.

397W    Novel evidence of high resolution and high field diffusion mri reveal a primate LGN-LGN connection. J.R. Korenberg.

398T    Genetic modulation of RNA splicing with a CRISPR-guided cytidine deaminase. X. Chang.

399F    PAX6 deep intronic single nucleotide variants as a cause of congenital aniridia. A.V. Marakhonov.

400W    Microcephaly associated to 5pter deletion in patients with Cri du chat syndrome. S.N. Chehimi.

401T    Investigation of the altered gene expression in cases with trisomy 18. I. Albizua.

402F    Integration of next-generation mapping and sequencing technologies for identification of pathogenic structural variants. E. Vilain.

403W    Identification of genetic modifiers by next-generation sequencing (NGS) of candidate genes in a 22q11.2 deletion syndrome patient. A.G. Dantas.

404T    Single-cell analysis of somatic mutations in aging of human liver. K. Brazhnik.

405F    Genome-wide analysis of stem cell mutational signatures in healthy tissues. M. Eriksson.

406W    Multi-tissue discovery of postzygotic variation in healthy humans. S. Vattathil.

407T    Genetic basis for APOBEC3H alternative splicing, L1 exonization, and interaction with HIV-1 protease in sub-Saharan African populations. D. Ebrahimi.

408F    The commitment complex in vivo over long intron genes. G. Lev Maor.

409W    Comparison of chitinolytic properties of mouse Chit1 and AMCase with Serratia marcescens chitinase B. M. Kimura.

410T    Evaluations of enzymatic properties for human and mouse chitotriosidase. T. Watanabe.

411F    Time and space dimensions of gene dosage imbalance of aneuploidies revealed by single cell transcriptomes. F.A. Santoni.

412W    Chitinase 3-like-1 with amino acid substitutions at the active site remains inactive. N. Kishigami.

413T    Quantification of chitinases mRNA levels by qPCR in crab-eating monkey tissues: Comparison with mouse and human. M. Uehara.

414F    RegulomeDB: A resource for the human regulome. Y. Luo.

415W    Structural and functional network abnormalities in the human brain of XYY syndrome. S. Liu.

416T    Simultaneous analysis of long-range chromatin interactions and DNA methylation by bulk and single cell Methyl-HiC. G. Li.

417F    Deep characterization of the contribution of short tandem repeats (STRs) to gene expression across tissues. S.Feupe. Fotsing.

418W    Gene expression analysis of mammalian chitinases in common marmoset (Callithrix jacchus) tissue. E. Tabata.

419T    Composite de novo Armenian human genome assembly and haplotyping via optical mapping and ultra-long read sequencing. H. Barseghyan.

420F    Use of nanopore sequence to validate and refine genome assembly. D. Mohr.

421W    Validation of copy number variations on TA repeat regions using MinION. T. Takahashi.

422T    A comprehensive map of cis-regulatory elements and 3D structure of the zebrafish genome. T. Liu.

423F    Progression of the molecular immune response in patients infected with Andes orthohantavirus (ANDV). G.Esteves. Ribeiro.

424W    De novo mutations shared by siblings. H.J. Jónsson.

425T    Associations of CHRNA3, CYP2B6 and UGT2B28 gene variants and urine levels of nicotine metabolites. G. Borrego-Soto.

426F    Transcriptome response of human skeletal muscle to divergent exercise stimuli. M. Naymik.

427W    Functional annotation of eSNPs by CRISPR-Cas9 mediated genome editing. R.. Tian.

428T    A de novo CNV deletion of the FOXF1 enhancer in 16q24.1 unmasks a rare noncoding SNP that likely prevented a lethal ACDMPV phenotype. P. Szafranski.

429F    SEMpl: Predicting the effects of single nucleotide polymorphisms on transcription factor binding affinity. S.S. Nishizaki.

430W    In vivo enhancer analysis with zebrafish. T. Kimura.

431T    A pedigree-based estimate of the human germline retrotransposition rate. J. Feusier.

432F    Global protein-protein and protein-DNA interactions of DNA topoisomerases. L. Uuskula-Reimand.

433W    Structural complexity at 3q29 locus: Contributions of genomic architecture to genomic disorders. T. Mosley.

434T    Measuring the rate of spontaneous structural variation through whole-genome sequencing of three generation human pedigrees. J.R. Belyeu.

435F    Comprehensive structural variant identification and genomic characterization using 720 deeply sequenced whole genomes. D. Jakubosky.

436W    The impact of structural variation on human gene expression. A.J. Scott.

437T    Germline copy number variants are associated with methylation variation in the genome. S.R. Setlur.

438F    The effects of structural variation on 3D chromatin structure. O. Shanta.

439W    Discovery and genotyping of new short and variable number of tandem repeats in the human genome. A. Sulovari.

440T    De novo human genome assemblies reveal novel sequences in diverse populations. K.H.Y. Wong.

441F    Patterns and mechanisms defining tissue specificity of human regulatory variation. S.E. Castel.

442W    New methods for discovery and interpretation of allelic diversity in human genomes. R.S. Fulton.

443T    Systematic dissection of transcription factor co-binding as a positive predictor of regulatory activity. A.A. Hardigan.

444F    Latest improvements in the human genome reference assembly (GRCh38). T. Rezaie.

445W    A comprehensive characterization of mitochondrial DNA variants in 1,256 healthy Northern Virginian families. W. Zhu.

446T    Shared patterns of variation between human individuals and cells: Somatic and germline mutation rates usefully predict each other. W. Meyerson.

447F    Nuclear genetic regulation of the mitochondrial transcriptome across multiple tissue types. A. Hodgkinson.


Prenatal, Perinatal, and Reproductive Genetics

 

448W    Fetal echocardiographic features and whole exome sequencing results of ventricular non-compaction cardiomyopathy. X. Y. Hao.

449T    Comparison of the prevalance of pathogenic copy number variation in tetralogy of fallot and associated congenital heart defect diagnosed between fetuses and children. T. Man.

450F    A gene-by-gene interaction associated with the risk of conotruncal heart defects. C. Lyu.

451W    Risk of congenital anomalies is associated with birth weight in infants of diabetic mothers. S. Ramanathan.

452T    Targeted cfDNA analysis using DANSR assays for determination of fetal RHD status. S. Saini.

453F    Prenatal diagnosis of unbalanced XY translocation following a sex discordance between prenatal cell-free DNA screening and ultrasound examination results. L. Lai.

454W    Case report: Heterozygous FGF10 deletion associated with severe pulmonary hypoplasia causing neonatal deaths in a family with Lacrimo-auriculo-dento-digital (LADD) Syndrome. T.M.. Bartell.

455T    Preimplantation genetic diagnosis for nephrotic syndrome. M.T. Akbari.

456F    Development of a polycystic ovarian syndrome algorithm to identify cases in electronic health records. K. Actkins.

457W    Prenatal characterization of osteogenesis imperfecta type V caused by IFITM5. T.K. Ha.

458T    Clinical exome sequencing identifies a COL1A1 splice altering mutation in a prenatally diagnosed skeletal dysplasia patient. M. Mulatinho.

459F    Non-invasive prenatal sequencing for pregnancies with fetal skeletal dysplasia using cell-free fetal DNA. Y. Jiang.

460W    Lethal skeletal dysplasias (SD): A clinical-epidemiological study based on 131 Brazilian fetuses including molecular investigation. D.P. Cavalcanti.

461T    Clubfoot as a prenatal clue to the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS). J.F. Homans.

462F    Combining familial genetic diagnosis with prenatal genetic testing for Mendelian disorders reduces recurrence risk. Z. Schlachetzki.

463W    SCN1A mutations in a SIDS cohort. C.A. Brownstein.

464T    The genetic landscape of sperm mosaicism: Implications for the recurrence risk of neutral and autism-causing mutations. M.W. Breuss.

465F    Rapid detection of Trisomy 13, 18, 21 and sex chromosomes aneuploidies – experience of a clinical hospital laboratory. K. Tan.

466W    A component of sperm fibrous sheath has major effect on testis morphology and functionality. N. Li.

467T    De novo mutations in caudal type homeo box transcription factor 2 (CDX2) in patients with persistent cloaca. J.S.J Hsu.

468F    Oculocerebrocutaneous (Delleman) syndrome. Prenatal manifestations and failure to identify tumors' somatic mutation using whole exome sequencing. N. Damseh.

469W    Prenatal detection and clinical outcomes of trisomy 16 using massive parallel sequencing of total cell-free DNA (cfDNA). A. McFaddin.

470T    The yield of chromosomal microarray analysis among 5750 fetuses with various sonographic anomalies. S. Ben-Shachar.

471F    Whole exome sequencing improves the genetic diagnosis in fetuses with increased nuchal translucency. H. Wang.

472W    Prenatal diagnosis of Cri-du-Chat (5p-) syndrome with persistent isolated fetal ascites: A case report. L. Mota-Vieira.

473T    A systematic evaluation of 450 fetuses: Phenotypes, genetic causes and impact on genetic counseling. S.S. Nayak.

474F    Imputed transcriptome analysis and phenome-wide association studies link the NAD metabolic pathway genes and congenital malformations in a biobank population. T.W. Miller-Fleming.

475W    Genomic autopsy to identify causes of abnormal fetal and neonatal development. P. Arts.

476T    Avoiding unnecessary trade-offs: Clinical experience for a noninvasive prenatal screen with both low no-call rate and high accuracy. S.E. Hancock.

477F    Prenatal diagnosis of tuberous sclerosis complex using high-throughput DNA sequencing combined with fetal echocardiography. J. Chen.

478W    Application of clinical next generation panel sequencing using exome enrichment for the genetic assessment of fetal malformations. U. Hehr.

479T    Smith-Magenis syndrome in two fetuses diagnosed with congenital heart defect. Y. Li.

480F    Clinical and genetic description of Mexican patients with prenatally identified cardiac tumors. L.F. Mariscal.

481W    Pre- and perinatal history in kabuki syndrome. C.E. Rosenberg.

482T    Rapid diagnostic testing for fetuses with multiple congenital anomalies detected through ultrasound scan using exome sequencing. B. Sikkema-Raddatz.

483F    Damaging de novo variants in congenital diaphragmatic hernia patients are associated with neurodevelopmental outcomes. L. Qiao.

484W    Prenatal phenotypes with segmental overgrowth related to PI3K-AKT-mTORpathway mutations: Phenotypic and molecular characterization. N. Bourgon.

485T    Maternal factors associated with DNA methylation-based placental aging. T. Workalemahu.

486F    Comparative Genomic Hybridization (aCGH) and Next Generation Sequencing (NGS) combine together give a comprehensive genetic diagnosis approach for prenatal anomalies. S.S. Chettiar.

487W    Aspirin enhances trophoblast invasion and represses sFlt-1 production: A putative mechanism for preventing preeclampsia. M. Su.

488T    Improved non-invasive prenatal testing by mitigating false predictions caused by maternal mosaic aneuploidy using size-based DNA. H.J. Kwon.

489F    GWAS for gestational hypertension using time-series home blood pressure data in maternity log study. Y. Tsunemoto.

490W    Deciphering the causes of early human pregnancy loss by exome analysis of abortuses. S.K. Garushyants.

491T    Cell-free DNA in embryo culture medium of in-vitro fertilization (IVF) for preimplantation genetic testing (PGT) for aneuploidy. K.W. Choy.

492F    Correlation of hemolysis and fetal fraction in cell-free DNA blood collection tubes for noninvasive prenatal testing. R. Stokowski.

493W    Pan-ethnic expanded carrier testing for fatty acid oxidation disorders. N. Echeverri.

494T    Conflicting cfDNA and microarray prenatal results: A unique repair process in a chromosomally normal fetus. V.R. Potluri.

495F    Genome-wide trans-ethnic meta-analysis identifies a novel locus influencing longitudinal fetal growth at sensitive periods in pregnancy. F. Tekola-Ayele.

496W    German Neonatal Network: Resource for genetic analyses in very low birth weight infants. T.K. Rausch.

497T    Whole exome sequencing of genomes of Korean patients with non-obstructive azoospermia. M. Go.

498F    CETN1 variants are associated with idiopathic male infertility: Genetic and functional perspectives. D.VS. Sudhakar.

499W    Genotoxicity of interferon beta in pregnant women with multiple sclerosis. M. Bouhlel.

500T    Toll-like receptor 1 (TLR1) is key gene in TLR6-TLR1-TLR10 gene cluster associated with preterm birth in Wisconsin cohort. D.M. Pillers.

501F    Real-time variant interpretation for full-exon sequenced expanded carrier screening panels. C. Lo.

502W    Clinical validity of expanded carrier screening: High concordance of inter-lab variant classifications. D. Muzzey.

503T    Genome-wide association study of a refined sub-phenotype of pregnancy duration: Pre-labor rupture of membranes. P. Sole-Navais.

504F    Revealing aging-related transcriptome and methylome dynamics in mouse oocytes development by single-cell parallel sequencing. TL. Lee.

505W    Unlocking the mysteries of preterm birth: Meta-analysis of maternal and fetal transcriptomic data elucidates the role of adaptive and innate immunity. B. Vora.

506T    Parent-of-origin determined allelic expression of imprinting candidate genes in the human placenta. M. Laan.

507F    Serotonin transporter (5-HTTLPR) genotypes and trinucleotide repeats of androgen receptor exert a combinatorial effect on hormonal milieu in patients with lifelong premature ejaculation. S. Bhatti.

508W    FANCM biallelic mutations cause non-obstructive azoospermia. L. Kasak.

509T    Identifying genetic factors that contribute to human female infertility. K.M. Tyc.

510F    Clinical impact and cost effectiveness of a 176 condition expanded carrier screen. K.A. Beauchamp.

511W    Embracing the challenges of isochromosomes in cell-free DNA prenatal screening. T. Boomer.

512T    Trisomy 8 mosaicism detected by NIPT: A +30 week diagnostic odyssey for fetus, parents, and clinicians. J.L. Giordano.

513F    Real-time quantification of cell free fetal DNA (cffDNA) in maternal plasma and its applications for non-invasive prenatal diagnosis. D. Misra.

514W    Maternal fragile sites resulting in maternal mosaic deletions: An additional explanation for false positive cell-free DNA. V. Nitibhon.

515T    Assessing causality in associations between maternal adiposity and obstetric and perinatal outcomes: A Mendelian randomization study. M. Taylor.

516F    Genetically determined modulalation of NLRP7-associated inflammatory response in the context of reproductive failure. U. Wysocka.

517W    Embryo sample tracking and identification during PGT using the mitochondrial genome. M.J. Jasper.

518T    A novel single tube approach for combined PGT-A and PGT-M using Ion Torrent™ NGS. S.A. Myers.

519F    Generation and validation of reference standards for non-invasive prenatal testing (NIPT). A. Mele.

520W    Whole genome amplification for STR profiling on single cells in cell-based non-invasive prenatal testing. A.S. Vander Plaetsen.

521T    Full-gene sequencing based expanded carrier screening of over 150 disorders. C. Gijavanekar.

522F    Fine mapping the MHC region identified two independent loci associated with non-obstructive azoospermia in Han Chinese males. M. Huang.

523W    Association analysis of HLA-G gene 3’UTR variant (rs1063320) with recurrent miscarriage. V. Kalotra.

524T    A comprehensive roadmap of murine spermatogenesis defined by single-cell RNA-seq. Q. Ma.

525F    Optimization of advanced DOP-PCR WGA for STR profiling in cell-based non-invasive prenatal testing. J. Weymaere.

526W    Transcriptional profiling of circulating exosomes defines molecular phenotypes of preeclampsia. J. Schuster.

527T    Cause for clinical concern: Genome-wide cfDNA for cases screening positive for trisomy 15. E. Soster.

528F    Improved DNA amplification used for human karyomapping to phase single gene defects. S. Rulli.

529W    Parents' attitude of chromosomally affected child towards carrier screening. N.N. Kadam.

530T    Clinical utility of expanded carrier screening: Results-guided actionability and outcomes. G.A. Lazarin.

531F    Mendelian mutations may explain a significant number of unexplained recurrent spontaneous abortions. H.M. Byers.

532W    Calculating power to detect maternal and fetal effects in genetic association studies. G-H. Moen.

533T    When is a disease too rare? A statistical framework for estimating clinical sensitivity for expanded carrier screening panels. R. Ben-Shachar.

534F    GenetiSure pre-screen assay for pre-implantation genetic screening by array CGH. N. Novoradovskaya.

535W    Pre-implantation genetic screening: One year experience at a single center in Northwest fertility clinic in Mexico. L. Patron.

536T    Fetal fraction evaluation in non-invasive prenatal testing. M.S. Hestand.

537F    Performance verification of the OnePGT preimplantation genetic testing system: Concurrent detection of aneuploidies, structural rearrangements, and monogenic disorders in single cells from in vitro fertilized (IVF) embryos. S. Happe.

538W    Digital karyomapping following genomic autopsy: Implications for preimplantation genetic diagnosis in the genomic era. T. Hardy.

539T    Rapid whole exome sequencing for diagnosis of prenatal phenotypes. A. Haworth.

540F    Parental age effects on the incidence of human de novo pathogenic variants. Y. Cao.


Genetic Counseling, ELSI, Education, and Health Services Research

 

541T    Acceptability of incorporating genetics in risk prediction of cognitive impairment in hematologic cancer survivors treated with blood or marrow transplantation (BMT). N. Sharafeldin.

542F    Rates of HPV infection in patients of health institutions in the district of David, province of Chiriqui, Panama. O.I. Batista.

543T    How Canadian general practitioners perceive their roles and information needs in a context of genetic susceptibility to breast and ovarian cancer in a rural area. M. Bezeau.

544F    The other genes: A qualitative look into experiences of patients with a genetic risk for breast cancer in genes other than BRCA ½. K. Clift.

545T    Increased breast cancer screening and prevention in ATM, CHEK2, and PALB2 mutation carriers identified by hereditary cancer panel testing. J.O. Culver.

546F    Ovarian and breast cancer genetic risk assessment in a community education program setting. K. Dhillon.

547T    A pipeline for identification and confirmation of potentially actionable germline mutations in tumor only genomic sequencing. D. Farengo Clark.

548F    Effects of nicotinamide on primary cervical cancer cells (fibroblasts): A new therapeutic modality. R.N. Hassan.

549T    The influence of Malay cultural beliefs on breast cancer screening and genetic testing: A focus group study. T. Shaw.

550F    Cervical screening for cancer and other cytologies: Role of repair genes P53 and hMLH1 methylation status. S. Thumoju.

551T    Digital direct engagement is an effective method for communicating updated test results. S. Topper.

552F    Genetic testing for breast cancer survivors. J. Wiggins.

553T    Findings of a universal screening program for Lynch syndrome in an integrated healthcare system. J.E. Hunter.

554F    Implementing personalized cancer medicine into primary care: Challenges and solutions. J.C. Carroll.

555T    Maternally inherited SDHD: Management challenges. J. Vengoechea.

556F    Incidental identification of a moderate penetrant germline RET mutation in a patient with advanced epithelial ovarian cancer: A significant benefit of a multidisciplinary molecular tumor board. T.A. DeMarco.

557T    BRCA1 and BRCA2 variant reclassifications from Mount Sinai Hospital, Toronto. J. Lerner-Ellis.

558F    BRCA in China: Two common founder mutations of BRCA1 in Chinese population. A. Li.

559T    Identification of pharmacogenetic markers in cancer supportive care. Z. Gu.

560F    Precision medicine in clinical cardiovascular care: Implementation of a multidisciplinary cardiogenetics clinic. L.D. Hellwig.

561T    Clinical outcomes of the TTR V122I mutation in a brother-sister pair. J. Liu.

562F    Type 2 diabetes: More likely in eveningness chronotype than morningness chronotype. Q. Naz.

563T    Identification of pathogenic variants associated with primary immunodeficiency (PID) in Jordanian patients using next generation sequencing (NGS). M.M. Abu-Halaweh.

564F    Anti-cyclic citrullinated peptide (CCP) in rheumatoid arthritis. Does it have any role in early onset of the disease? A. Niraula.

565T    A rare case of familial hyperoxaluria and male infertility. R. Frikha.

566F    Effects of oral eliglustat on bone in adults with Gaucher disease type 1: Long-term results from four clinical trials. J. Charrow.

567T    Living with xeroderma pigmentosum in Guatemala: Yulmacap village experience. C.L. Carranza.

568F    Academic performance variability amount adults with Asperger's syndrome: A clinical cohort study. P. DeSanto.

569T    A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain. G. Mainali.

570F    Identifying and counseling patients amenable to mutation-specific therapies in Duchenne muscular dystrophy: Knowledge of resources will fuel genetic counselors’ impact. A. Ferlini.

571T    Return of genetic results: Social and cultural challenges in an African population. G. Landouré.

572F    Parental postzygotic de novo mutation causes different clinical manifestations of COL4A1-related disorder in one Chinese family. J. Wang.

573T    Epigenetic, serological and self-report sxaminations of adolescent substance use demonstrates that sex abuse results in the initiation and acceleration of smoking: Implications for public policy and clinical practice. R.A. Philibert.

574F    Psychiatric pharmacogenomics: Panacea or predicament? E. Huang.

575T    Utilization and impact of a psychiatric pharmacogenetic panel in the Department of Veterans Affairs. L.E. Hull.

576F    What do the mothers of patients with ATR-X syndrome consider their carrier risk? Y. Sato.

577T    DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene. M. Bailey.

578F    Regulation of mitochondrial replacement therapy: A literature review analysis of where Canada, the US, the UK, and Mexico stand. F. Noohi.

579T    Genetic counseling for 397 deaf-mute couples directed by genetic testing. M. Han.

580F    Clinical and epidemiological description of congenital anomalies associated with visual and auditory deficit in Bogotá Colombia from 2001 to 2016. K. Sarmiento.

581T    Psychosocial impacts of Mendelian eye conditions: A systematic literature review. C.S. DAmanda.

582F    Are we ready for rapid genomic testing in acute paediatric care? Attitudes of Australian health professionals. Z. Stark.

583T    Evaluation of the clinical utility of proactive genetic screening for medically actionable conditions. J. Oldzej.

584F    Harmonizing outcomes for genomic medicine: Comparison of eMERGE outcomes to ClinGen outcome/intervention pairs. M.S. Williams.

585T    The life of a “poor metabolizer” — through the eyes of medical genetics summaries. L.C. Dean.

586F    Clinical application of targeted whole exome sequencing (WES) at the Geneva University Hospital: An update. E. B. Hammar.

587T    A novel web-based application for searching pharmacogenetic information for migalastat amenability in Fabry disease. X. Wu.

588F    Growing the genetic counselor workforce: A successful local effort. C.A. Campbell.

589T    Evaluation of perceptions and attitudes of medical school undergraduate students towards medical genetics at El Bosque University in Colombia. R. García-Robles.

590F    Participants as partners in research: Communicating a timeline to research participants for results with a “fuzzy ending”. N.S.Y. Liang.

591T    Evaluating reach of genetic services to medically underserved populations. M. Lyon.

592F    Genome Odyssey: Theatre as an effective way to teach population genetics concepts to children. A. Malaspinas.

593T    Long-term impact of presymptomatic genetic testing for HD: Family narratives. J.M. Bollinger.

594F    The burden of biased variant datasets: Examining enrollment and candidate genes for non-European rare disease probands in the Duke Task Force for Neonatal Genetics. E.F. Bullis.

595T    Gene editing: Emerging law and policy perspectives in Europe. A.C. de Paor.

596F    The duty to recontact in genomics: Is the law out of touch? B. Knoppers.

597T    Preferences and incidence of secondary findings in a cohort of adult patients undergoing exome sequencing. S. Shickh.

598F    Genetic risk: Whether, when, and how to tell adolescents. K.M. Stuttgen.

599T    The factors related with attitudes toward informed assent for genomic research. Z. Yamagata.

600F    A new model for genomics support of military healthcare providers: Early findings from the MilSeq project. M.D. Maxwell.

601T    A literacy-focused “modified” genetic counseling approach for the return of exome sequencing results to underserved and ancestrally diverse patients. L.M. Amendola.

602F    Communicating uncertainties in genomics: Results of a narrative literature review. B.B. Biesecker.

603T    An iterative process to develop a statewide network of genetic counselors in Connecticut. K. Sanghavi.

604F    Genetic counseling services in Washington state: A capacity assessment. N. Shridhar.

605T    Return of data on genetic and lifestyle risks to participants of Estonian Genome Center. N. Tonisson.

606F    Understanding Fabry disease symptoms and impact on daily lives: A qualitative study. A. Hamed.

607T    Using real-world pharmacogenomics knowledge resources to guide clinical decision-making. R. Hart.

608F    Pharmacy-supported return of pharmacogenomic test results: Preliminary data. E. T. Matey.

609T    Knowledge and attitudes on pharmacogenetics among pediatricians in America and Japan. S. Rahawi.

610F    Building quality assurance measures into an effective evidence based precision medicine program. A. Schultz.

611T    Pharmacogenetic testing in primary care practice: How to speed up the transfer of knowledge? K. Tremblay.

612F    Pharmacist process for providing personalized eConsults to support large scale pre-emptive pharmacogenomic (PGx) testing. J. Wright.

613T    Disclosure of reclassified VUS results of deceased patients to family members: Current practices. S. Lascurain.

614F    A strategic approach to institutional genomics excellence: The Center for Pediatric Genomics. J.M. Furgason.

615T    Test2Learn: Leveraging personal genomic testing to advance primary care genomics education. M. Massart.

616F    Increased comprehension of a consent chatbot for research exome sequencing via rapid iteration. T.J. Schmidlen.

617T    Ethical review processes for bioinformatics research using human genome data: Analysis of specific requirements in the changing environment of personal data protection regulations. M. Kokado.

618F    Frequency, characteristics, and impact of discordant lab to clinician genetic test result interpretation in a single pediatric medical center. C. Berrios.

619T    Assessing the genetic literacy of the general population: A literature review. N. Akiyama.

620F    Are we understanding each other? Early lessons from recruiting non-English speaking families for a study investigating the utility of WES in underserved populations. B. Anguiano.

621T    High throughput counseling: A model for genetic testing results disclosure and patient management. A. Arjunan.

622F    Precision medicine & genomic education for clinicians: Effectiveness of a novel online CME program. E. Edelman.

623T    How is meiosis taught in high school? A critical gap for students. D.L. Newman.

624F    A teaching vignette: Our experience incorporating personalized pharmacogenetic testing into the PharmD curriculum. S.S. Oh.

625T    Review of the current status of clinical practice guidelines in Japan for returning individual research results on genetic diseases. Y. Aizawa.

626F    Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience. S.L. Elson.

627T    Engaging diverse communities with facilitated deliberation: Stakeholder perspectives from the Alabama Genomic Health Initiative. S.J. Knight.

628F    ELSI research on the use of electronic methods for participant engagement in medical research: Analysis from the perspective of ethical principles. A. Kogetsu.

629T    TAG: A rapid assessment tool of genetic literacy. H. Milo Rasouly.

630F    Ancestry isn't the past, it's the future: Human genetics research and race. V. Moreno.

631T    Survey on the perception of germline genome editing among the general public in Japan. K. Muto.

632F    Return of genomic results in the research context – review of the global situation. F. Nagami.

633T    Airmen's attitudes toward genomic sequencing in the US Air Force: Results from the MilSeq Project. D.K. Petersen.

634F    The EXCEED study: Practical issues in design and conduct of a recall-by-genotype resource. N.F. Reeve.

635T    Privacy attitudes and information sensitivity perceptions are associated with health services utilization. C.K. Rubanovich.

636F    Attitudes towards genetic testing among participants in the Jackson and Framingham Heart Studies. K.W. Saylor.

637T    Ethnic identity and intentions to learn results in an exome sequencing study. E. Turbitt.

638F    Repurposing of whole-exome sequencing data for personalized medicine. M. van der Lee.

639T    An innovative software to scale genetic counseling needs in a time of increasing demand. G. Snir.

640F    A smartphone app to facilitate family communication of genetic results. C. J. Jujjavarapu.

641T    The role of emerging disease-modifying therapies in reproductive decision-making for cystic fibrosis and Duchenne muscular dystrophy carrier couples. A.F. McCague.

642F    Development of patient “profiles” to tailor counseling for incidental genome sequencing results. L. Carlsson.

643T    Primary care providers’ perspectives on the use of genome sequencing in research among healthy children. E. Joshi.

644F    Quality of life is a major driver of patients’ preferences for incidental genome sequencing results. C. Mighton.

645T    Whole genome sequencing: Parent-reported outcome measures. J. Nelson.

646F    Temporal differences in concerns, motivations, and attitudes regarding predispositional genome sequencing among healthy adults: Findings from the PeopleSeq Consortium. E.S. Zoltick.

647T    Clinician and parent perceptions of genomic sequencing in the Neonatal and Pediatric Intensive Care Units: A blinded randomized clinical trial at Rady Children’s Hospital. J. Cakici.

648F    Pragmatism in pharmacogenetics trials: A PRECIS-2 perspective on the Integrating Pharmacogenetics in Clinical Care (I-PICC) Study. C.A. Brunette.

649T    Projected prevalence of actionable pharmacogenetic variants and associated drug use in the VHA patient population: Impact and implications of adopting clinical pharmacogenetics implementation consortium (CPIC) guidelines for treatment of veterans. C. Chanfreau.

650F    Utilization of drugs with FDA and CPIC guidelines and pharmacogenetic testing in pediatric clinical settings. D. Salyakina.

651T    Development and validation of the multi-dimensional index of clinical utility: A novel measure to assess value and aid decision-making in genomic medicine. R.Z. Hayeems.

652F    Assessment of physician recommendations of warfarin genotype testing in a virtual clinic. B.M. Hollister.

653T    Assessment of the human bioresource in K-NIH for precision medicine. J.W. Kim.

654F    Attitudes of health professionals about the Cree encephalitis and Cree leukoencephalopathy education and carrier screening program, a population-based carrier screening program in a Canadian first nation. J. Le Clerc-Blain.


Cancer Genetics

 

655T    Juvenile hyaline fibromatosis is an autosomal recessive genetic disease. Four cases report. J. Aparicio.

656F    Whole exome sequencing to identify candidate genes associated with hereditary predisposition to UM. M.H. Abdel-Rahman.

657W    Clinical relevance of screening tools for detection of cancer predisposition syndromes in an Asian cohort of childhood tumors. S. Chan.

658T    Novel PTEN gene variant associated with growing teratoma syndrome. S.L. Cole.

659F    Assessing the prevalence and clinical implications of secondary findings for hereditary cancer predisposition among patients with chronic kidney disease. E. Groopman.

660W    Exome sequencing in high breast and ovarian cancer incidence families which lack detectable mutations in established cancer susceptibility genes. P.A. Kenny.

661T    APC testing in pediatric patients. S.C. Knapke.

662F    An essential role for BRCA2 in ovarian development and function. E. Levy-Lahad.

663W    Germline lysine-specific demethylase 1 mutations confer susceptibility to multiple myeloma. S. Lipkin.

664T    An atypical late-onset case of homozygous ATM variant supported by a complex molecular mechanism of mosaic uniparental isodisomy. S. Nambot.

665F    A mouse model to study tissue-specific response to Brca1 loss. J. O. Olayiwola.

666W    Evidence of reduced penetrance in BRCA2 truncating variant c.658_659del (p.Val220Ilefs*4). N. Singh.

667T    A RAD51C mutation causing HBOC is expanded in the Newfoundland population likely due to a founder effect. S. Werdyani.

668F    Multilocus inherited neoplasia alleles syndrome (MINAS): New cases of double heterozygosity for pathogenic cancer predisposition gene variants revealed by whole genome sequencing. J. Whitworth.

669W    Exploring the range of renal lesions in DICER1 syndrome. M. Apellaniz-Ruiz.

670T    Leukemia in a patient with 15q overgrowth syndrome. E.E. Bodle.

671F    Assessing the modifying capacity of CD36 in Lynch syndrome compared to that observed in familial adenomatous polyposis. T. Connor.

672W    Synonymous but not silent: A synonymous VHL mutation confers susceptibility to pheochromocytomas in a four-generation family. S.K. Flores.

673T    Accurate clinical interpretation of moderate risk breast cancer genes requires inclusion of the significant modifying effects of common genomic variants and family history. P.A. James.

674F    A retrospective cohort study investigating age and gender specific presentations of Li-Fraumeni Syndrome. S.P. MacFarland.

675W    Challenges in clinical variant classification in TP53: A representative case series for TP53 c.1000G>C; p.G334R. J. Powers.

676T    Beyond Lynch syndrome: Thinking about CMMRD. R. Quero.

677F    Phenotypic variability in familial FH whole gene deletion. C. Quindipan.

678W    Co-occurrence of neurofibromatosis Type 1 (NF1) and Type 2 (NF2): Common downstream effects on the RAS pathway with implications for tumor burden and potential treatment. S. Krishnamurthi.

679T    A de novo BRCA2 mutation identified in a woman with breast cancer and strong maternal family history. R. Drouin.

680F    Analysis of actionable adult-onset disease risk findings in newborn genomic sequencing. O. Ceyhan-Birsoy.

681W    Germline MSH2 c.-82G>C promoter variant found in Newfoundland patients with mismatch repair deficiency. A.L. Jacobson.

682T    VHL Information Sharing International Consortium (VISION): A ClinGen expert panel to evaluate VHL gene-specific criteria for variant interpretation. D.I. Ritter.

683F    Identifying genetic polymorphisms conferring inverse risk in Alzheimer’s and cancer using multivariable association analysis. G. Pathak.

684W    Systematic study of chromosomal instability across human cancers. B.N. Lasseigne.

685T    Biological networks modulating chemotherapy response in ovarian cancer. D.G. Topouza.

686F    Genetic risk factors for high-risk human papillomavirus (HPV) infection and persistence among women of African ancestry. C.A. Adebamowo.

687W    Classical HLA alleles are associated with persistent high-risk human papillomavirus (HPV) infection in African women. S.N. Adebamowo.

688T    Functional network-based mapping identifies disease genes in polygenic loci unresolved by fine-mapping of cutaneous melanoma GWAS. M. Artomov.

689F    Genetic association between IFITM gene polymorphisms and cervical cancer susceptibility. T. Chang.

690W    Genetic ancestry and the risk of cutaneous squamous cell carcinoma. H. Choquet.

691T    Comparative analysis of the expression of PARKIN, APC and KI67 in colorectal polyps and adenocarcinomas. C.C.V. da Silva-Camargo.

692F    Nicotinamide induces mitochondrial-mediated apoptosis through oxidative stress in human cervical cancer HeLa cells. Y. Feng.

693W    Array comparative genomic hybridisation of familial prostate cancer tumours identifies a recurrent copy number gain on chr19p13.3 encompassing the EEF2 gene. L.M. FitzGerald.

694T    Pathway-analysis of MAPK/ERK SNPs in gastric cancer. P. Gonzalez-Hormazabal.

695F    Impact of next generation sequencing on the analysis of familial breast cancer in African populations. Y. Hamdi.

696W    Long non-coding RNA p10247, high expressed in breast cancer (lncRNA-BCHE), is correlated with metastasis. T. Hayano.

697T    An integrative approach for mapping the mutation landscape of DNA repair genes and pathways in prostate cancer. C. Hicks.

698F    Genotype/phenotype assessment in male BRCA1/2 pathogenic variant carriers. S. Hiraki.

699W    The incidence of occult ovarian neoplasia and cancer in BRCA1/2 mutation carriers after the bilateral prophylactic salpingo-oophorectomy (PBSO): A single center prospective study. R. Janavicius.

700T    An association study of genetic variants located in DHSs with the risk of gastric cancer in Chinese population. Y. Jiang.

701F    The analysis on the mechanism of apoptosis induced by inhibiting G6PD activity in HeLa cells. W. Jiang.

702W    The genomic landscape of recurrent ovarian cancer reveals mutational processes and functional mechanisms that drive chemoresistance. M.R. Jones.

703T    Early lifestyle factors are associated with an increased risk of atopic disorders in lymphoid cancer families. S.J. Jones.

704F    Mendelian randomization study of pulmonary function and lung cancer risk using novel genetic instruments developed in the UK Biobank cohort. L. Kachuri.

705W    Genetic polymorphisms in the SPC25, LOC285762 and NPY genes are associated with colorectal advanced adenoma in a Korean population. S. Kang.

706T    Chromosome 10q24.32 variant increases risk of non-melanoma skin cancer and Bowen’s disease in arsenic exposed population. M.G. Kibriya.

707F    Small RNA sequencing of 441 normal prostate transcriptomes reveals prostate cancer risk-SNP eQTL associations with miRNA expression. N.B. Larson.

708W    Novel pathogenic variants for high-risk breast cancer identified from whole exome sequences of Korean BRCAX cases. J.-Y. Lee.

709T    Identifying candidate genes associated with breast cancer predisposition in BRCA1/2 mutation-negative individuals. A.S.G. Lee.

710F    Cervical cancer in Guatemala: Somatic mutations and molecular analyses of the HPV16 D2 and D3 sub-lineages. H. Lou.

711W    Evaluate a new painel of SNPs to predisposition of development of thyroid cancer in admixture population. A.D. Luchessi.

712T    Characteristics of potentially actionable germline findings identified on tumor-only sequencing: Implications for cancer risk assessment. K.N. Maxwell.

713F    eQTL and co-expression network analyses uncover genetic and regulatory mechanisms underlying multiple myeloma. H.M. Natri.

714W    Evaluation of a 94-gene inherited cancer panel across 248 families referred for testing to a reference molecular diagnostic laboratory. H. Onay.

715T    Putative non-coding cis-regulatory drivers in chronic lymphocytic leukaemia and skin cancer. H. Ongen.

716F    Mutational patterns and novel mutations in a large cohort of parathyroid carcinomas. C. Pandya.

717W    Segmental odonto-maxillary dysplasia: A mosaic disorder due to missense mutations in ACTB. S. Polubothu.

718T    Whole-exome sequencing identified mutational profiles of squamous cell carcinomas of anus. S. Shin.

719F    Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity. C. Udagawa.

720W    Whole-exome case-control association to characterize the contribution of rare coding variants to sarcoma susceptibility. Y. Yu.

721T    Integrating of multi-omics data for the prognostic assessment of breast cancer. C. Yu.

722F    Cancer-associated mutations in colorectal adenomatous polyps. C. Zeng.

723W    Clinical presentation of individuals with mosaic APC variants. M.E. Roberts.

724T    Using low coverage and off target sequencing for polygenic risk scores and ancestry. J.R. Homburger.

725F    Characterizing known risk loci for colorectal cancer in African Americans. H. Wang.

726W    Co-localization of chromatin QTLs and expression QTLs to establish functional mechanisms at ovarian cancer risk loci. M.K. Freund.

727T    Rare disruptive coding variants and prostate cancer risk in men of African ancestry. M. Matejcic.

728F    GWAS identifies the first risk loci for gastroesophageal reflux disease, with most influencing risk of Barrett’s esophagus and/or esophageal adenocarcinoma. J. An.

729W    Genome-wide interaction analysis of menopausal hormone therapy and breast cancer risk. X. Wang.

730T    Whole genome sequencing identifies candidate germline variants leading to familial non-medullary thyroid cancer. Y. Wang.

731F    Characterizing the spectrum of low-penetrance variants predisposing to papillary thyroid cancer. D.F. Comiskey.

732W    Genome-wide association study to identify novel biomarkers for trastuzumab-induced cardiotoxicity. M. Hara.

733T    The role of genetic variants in methotrexate-induced toxicities in patients with osteosarcoma. M.J.H. Coenen.

734F    Optimizing cisplatin chemotherapy through SNAIL pathway expression regulation implicates S100P as potential target. C. Del Greco.

735W    Association between imputed pancreatic gene expression profiles and the development of L-asparaginase-induced pancreatitis. B.I. Drogemoller.

736T    Elucidating the relationship between ER stress and cisplatin on gene regulation in colorectal cancer cells. A.P. Hubert.

737F    Genome-wide association study of anthracycline-induced cardiotoxicity in adult cancer patients. E.N. Scott.

738W    The alkylating drug Irofulven shows potent tumor inhibition in an ERCC3 mutant background. S. Topka.

739T    Application of human genetics to launch and guide the discovery of a novel cancer immunotherapy. J. Hutz.

740F    Exploring function of genetic variants in lung adenocarcinoma by integrated association analysis of multi-omics data. J.B. Chen.

741W    A meta-analysis of more than 237,380 men of diverse ancestries identifies 40 new risk loci for prostate cancer. D.V. Conti.

742T    Increased penetrance of acute lymphoblastic leukemia susceptibility loci in children with Down syndrome. A.J. de Smith.

743F    Multi-omics analysis of Ashkenazi Jewish melanoma patients reveals novel genetic markers of melanoma recurrence. A. Archambault.

744W    Association of non-homologous recombination genes with ovarian cancer using clinical exomes as controls. K. Arvai.

745T    Validation of a prostate cancer genetic risk score for clinical use. M.H. Black.

746F    Evaluation of the impact of rare-variants on adrenocortical carcinoma susceptibility. R.J. Bohlender.

747W    A novel statistical model for GWAS to identify somatic mutation effects using matched data. Y. Bu.

748T    Variants in the PSCA gene associated with risk of cancer and non-neoplastic diseases: Systematic research synopsis, meta-analysis and epidemiological evidence. H. Cui.

749F    Using germline variants to predict glioma risk and identify glioma subtype pre-operatively. J. Eckel-Passow.

750W    Immunomodulatory pathways impact genetic susceptibility to the development of multiple primary melanomas. R. Ferguson.

751T    PSCA in multiple cancer types: Association with cancer risk and survival. O. Florez-Vargas.

752F    Association of race, socioeconomic status and stress with Decipher® genomic classifier risk scores and gene expression: Implications on prostate cancer personalized treatments. A. Grover.

753W    COMT modifies vitamin E effects in cancer prevention: Gene-supplement interactions in two randomized clinical trials. K. Hall.

754T    Deep targeted tumor sequencing of colorectal cancer cases to study associations of molecular subtypes with clinical, genetic, and lifestyle risk factors. T.A. Harrison.

755F    Application of a joint longitudinal mixed model and survival model to genetic analysis of advanced neoplasia in a colonoscopy screening cohort. E.R. Hauser.

756W    Genetic interaction analysis among oncogenesis-related genes revealed novel genes in lung cancer development. Y. Li.

757T    A pan-cancer GWAS of metastasis identified a novel metastasis susceptibility loci. M. Machado.

758F    IFNL4-DG allele is associated with an interferon signature in tumors and survival of African-American men with prostate cancer. L. Prokunina-Olsson.

759W    Height and body mass index as modifiers of ovarian cancer risk in 22,588 carriers of BRCA1 or BRCA2 mutations: A Mendelian randomization study. F. Qian.

760T    Genetic association analysis of longitudinal colonoscopies in a colonoscopy screening cohort in the VA Medical System. X. Qin.

761F    Interconnections between knock-down genes, cancer types, and landmark genes. M.B. Rao.

762W    Pathogenic germline mutations in lung cancer in the Clinical Cancer Genomics Community Research Network. K.L. Reckamp.

763T    Clinical and molecular characteristics of somatic NF1 mutations identified on hereditary cancer multi-gene panels. A. Safonov.

764F    Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility and DNA repair defects. K. Sarin.

765W    Sex differences in gene coexpression across the cancer genome atlas studies. A.D. Skol.

766T    Lipid traits variants and the risk of non-Hodgkin lymphoma subtypes: A Mendelian randomization study. S.L. Slager.

767F    Pathogenic germline variants associated with young onset colorectal cancer. T.P. Slavin.

768W    Colorectal cancer susceptibility loci and influence on survival. N. Song.

769T    Breast cancer and ovarian cancer risk genes: Meta-analysis of sequencing results of NGS multi-gene panels. M. Suszynska.

770F    Penetrance for carriers of a DNA mismatch repair gene specific variant. A.K. Win.

771W    Functional informed genome-wide interaction analysis of body mass index on colorectal cancer risk. Z. Xia.

772T    Estimation of the polygenetic architecture of ten cancers and its implications for future discoveries. Y. Zhang.

773F    A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics. H. Zhang.

774W    Transcriptome-wide association study for pancreatic cancer. J. Zhong.

775T    Differences in germline TP53 variant classifications affect the estimates of population prevalence of Li-Fraumeni syndrome: A gnomAD-based analysis. KC. De Andrade.

776F    Evaluating segregation evidence from multiple extended high-risk pedigrees. R.G. Waller.

777W    A Bayesian framework to detect differentially methylated loci in both mean and variability with next generation sequencing. H. Xu.

778T    Functional annotation enrichment based weights for multiple comparisons correction in genome-wide gene-environment interaction studies. C.B. Haas.

779F    Fine-mapping of loci in polyunsaturated fatty acid metabolism genes. N.K. Khankari.

780W    Characterization of candidate functional variants in CASP8 from a melanoma locus at chr2q33-q34. H. Kong.

781T    Pathway-based analysis of prostate cancer integrating eQTL data and GWAS summary statistics from the UK Biobank. T.J. Meyers.

782F    Analysis of the CDKN2A gene in FAMMM syndrome families reveals early age of onset for additional syndromic cancers. C.D. Middlebrooks.

783W    Integrative latent unknown cluster assignment using multi-omics data with phenotypic traits. C. Peng.

784T    BRA-STRAP: Personalized medicine to precision public health. T. Nguyen-Dumont.

785F    Fine-mapping of 150 breast cancer susceptibility regions to single-variant resolution and prediction of target genes. J. Beesley.

786W    Judging genetic loci by the company they keep: Comparing network-based methods for biomarker discovery in familial breast cancer. H. Climente-González.

787T    Phenotype-driven burden testingfor identifying rare and common variants influencing the somatic mutation landscape in 2,642 cancer genomes. F.M. De La Vega.

788F    Whole exome sequencing in lung cancer families identifies significantly linked loci on multiple chromosomes. A.M. Musolf.

789W    Multivariable Mendelian randomization study of adiposity measures, puberty onset, and prostate cancer risk. C. Zhang.

790T    Re-interpreting PAM50: Intrinsic tumor dimensions, prognosis and response to paclitaxel. N.J. Camp.

791F    Mosaic Y loss and incident cancer risk in the UK Biobank. M.J. Machiela.

792W    Association testing in admixed populations using aggregated data. E. Ziv.

793T    TWO-SIGMA-geneset: TWO-component SInGle cell Model-based Association method for Gene Set Testing. E. Van Buren.

794F    Genome partitioning with region-based analysis adapted to linkage disequilibrium (LD) structure in lung cancer case-control association analysis. M. Brossard.

795W    iMEM: A novel data statistical method for integrating mutation, gene expression and methylation with an application to a paired oral cancer dataset. S. Das.

796T    Polygenic prediction of breast cancer: Comparison of genetic predictors and implications for screening. K. Läll.

797F    Quantifying uncertainty in causal biological networks. E.A. Martin.

798W    Using Bayes model averaging for admixture mapping. L.C. Moss.

799T    Classification of variants without prior penetrance estimates and the effect of ascertainment bias on classification. J. Ranola.

800F    Rare variant tests for association in affected sib pairs with application to breast cancer. R.G. Romanescu.

801W    Y-chromosome lineages and its contribution to prostate cancer in Mestizo population from Mexico City. E. Álvarez-Topete.

802T    A survey of germline mutations with epithelial ovarian cancer in Japanease patients. A. Abe.

803F    Quantifying the varying selective processes of pre-tumor and tumor evolution from high-coverage sequence data. A. Ang Houle.

804W    Genetic testing for the Tier 1 genomic conditions in a population-level cohort. C.L. Neben.

805T    Quantifying the evolutionary parameters of age-related clonal hematopoiesis (ARCH). K. Skead.

806F    Intratumor heterogeneity of non-small-cell lung cancer with EGFR mutations. X. Zhao.

807W    ScaR - A tool for sensitive detection of known fusion transcripts: establishing prevalence of fusions in testicular germ cell tumors. A.M. Hoff.

808T    Isoform expression signatures associated with epigenetic interactions between miRNA and DNA methylation in bladder cancer. M. Shivakumar.

809F    Isoform expression analysis reveals distinct subset of cancer: Role of alternative splicing patterns of LARS in colon adenocarcinoma. H. Song.

810W    Analysis of gene fusions and simple nucleotide variants using molecular bar coded chemistry. J. Balan.

811T    Deep learning approach to automate somatic variant refinement. E.K. Barnell.

812F    Bioinformatics and DNA-extraction strategies to reliably detect genetic variants from FFPE breast tissue samples. A.V. Bhagwate.

813W    Integration of biological information into the CIViC database cancer variant representation. A. Danos.

814T    GCC-Calc, a method and tool to identify, compare, normalize and interpret genomic copy number variation in longitudinal bone metastases and xenografts. T. Gaasterland.

815F    A sensitive and robust pipeline for analyzing 5hmC patterns from low coverage oxidative bisulfite sequencing. R.L. Goldfeder.

816W    Development and analytical validation of highly customizable next-generation targeted sequencing technology for the detection of gene fusions at a very low frequency. R.K. Gottimukkala.

817T    Combining single-cell RNA and DNA sequencing analysis to measure genomic instability at individual clone resolution in gastric cancer. S.M. Grimes.

818F    Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in the Cancer Genome Atlas. O. Harismendy.

819W    Identification of critical cis-regulators of differential gene expression between EGFR mutant and wild-type lung adenocarcinomas. H. Ho.

820T    Deconvoluting pathway dynamics using big data. S.Chloe. Jang.

821F    PathoMAN: An automated germline cancer variant classification tool for pathogenicity and clinical actionability. V. Joseph.

822W    Improving variant detection with unique molecular index technology: The case of biomedical benomics workbench. F. Lescai.

823T    Ensemble machine learning for identifying the important biomarkers in proteogenomics cancer study. Y. Liang.

824F    Amplicon Reconstructor: Optical mapping aids the reconstruction of complex, large cancer genome rearrangements. J. Luebeck.

825W    Classification of prostate cancer patients as indolent or aggressive using machine learning approach. T. Mamidi.

826T    Analysis of targeted sequencing data of hereditary lung cancer families identifies germline copy number variations (CNVs) in multiple genes. D. Mandal.

827F    A high throughput software pipeline for NGS-based association studies: From assembly to candidate variants and their effect on 3D protein structures. K. Maxfield.

828W    Expanding GEMINI to annotate and prioritize subclonal mutations in heterogeneous tumors. T. Nicholas.

829T    Identification of disruptive germline and somatic variants in intronic splicing sequences and their confirmation by RNA expression in 2,489 cancer patients. A. Polley.

830F    Beyond BRCA: Discovery of novel drivers of homologous recombination deficiencies. N. Sahni.

831W    An integrated systems analysis of miRNA target network associated with natural killer cell activation. G. Thillaiyampalam.

832T    Coordinating variant interpretation knowledgebases improves clinical interpretation of genomic variants in cancers. A. Wagner.

833F    Machine learning-based genome-wide interrogation of copy number aberrations in circulating tumor DNA for non-invasive detection of early-stage hepatocellular carcinoma. Q. Wei.

834W    Breast cancer type classification using machine learning approach. J. Wu.

835T    Comprehensive analysis of genetic variations in patients with acute lymphoblastic leukemia. W. Yun.

836F    Reconstruct pseudogene regulatory networks using natural language processing for novel drug target prediction. Y. Zhang.

837W    Integrating genetic information with machine learning to predict which prostate cancer cases should not be immediately treated. T.B. Cavazos.

838T    Clinically actionable fusion genes and their detection through whole transcriptome sequencing (RNASeqTM) from FFPE solid tumor biopsies. H.K. Chandok.

839F    Predicting melanoma survival with deep neural networks. L. Cordeiro.

840W    Immune cell tumor infiltration in TCGA: A genome-wide association study. E.A. Daly.

841T    Multiscale mapping of the functional architecture of cancer systems. M. Flagg.

842F    Tumor gene expression profiles segregate across primary sites. F.G. Frost.

843W    Integrated genomic, epigenetic, and expression analyses of ovarian cancer cell lines. D. Hallberg.

844T    The genomic landscape and pharmacogenomic interactions of circadian genes in cancer chronotherapy. L. Han.

845F    HLI Cancer Search: A scalable, cloud-based search engine for cancer genome analysis. A. Harley.

846W    Inferring the evolutionary order of somatic mutations with RankNet. W. Hsieh.

847T    Biological and functional impacts of tumor suppressor gene inactivation events: A pan-cancer study. P. Jia.

848F    Molecular drivers of localized prostate cancer. K. Kasaian.

849W    Implementing the latest clinical variant guidelines through evolution of a cancer variant interpretation interface. K. Krysiak.

850T    Tumor-only microsatellite instability classification. C.K. Lau.

851F    Comprehensive analysis of genomic alterations for lymph node metastasis in gastric adenocarcinoma revealed the critical role of PI3K/AKT/mTOR pathway. S. Lee.

852W    Gene regulation and cell-cell communication underlying intra-tumoral hetereogeneity in HCC liver cancer. B. Losic.

853T    HPV-related human cancers exhibit human-viral hybrid extrachromosomal circular DNA-like structures. N. Nguyen.

854F    Identification of profiles of mutation and CNA predictive of survival in patients with lung adenocarcinoma. K.Y. Oróstica.

855W    Estimation of Microsatellite Instability (MSI) using Ion Torrent Sequencing technology. A. Pankov.

856T    Linkage mapping and structural variant analyses using whole genome sequencing (WGS) identify a novel germline deletion in ETV6 as the cause of acute lymphoblastic leukemia in an Australian pedigree. E. R. Rampersaud.

857F    Personalized drug combination prediction in triple-negative breast cancer using single-cell sequencing. Z. Safikhani.

858W    Identification of genetic variants associated with risk of familial endometrial cancer. N.J. Shamsani.

859T    A minigene platform to validate novel immunogenic peptides arising from somatic mutations as therapeutic cancer vaccines. X. Shi.

860F    Allelic imbalance profiling of premalignant lesions of the lung. S. Sivakumar.

861W    Leveraging unique molecular indices to detect chimeric gene fusions. B. Vilhjalmsson.

862T    Analysis of next-generation sequencing data on African American hereditary prostate cancer cases identifies CNVs in multiple genes. K. Wood Termine.

863F    Fast deconvolution tool for separating subtype specific signals from mixed tumor genomic data. L. Yang.

864W    Comprehensive transcriptomic analysis of cell lines as models of primary tumor samples across 22 tumor types. K. Yu.

865T    Pan-cancer biomarker identification: Survival distinctions based on transcriptome-wide RNAseq expression. S. Zaman.

866F    Comprehensive characterization of alternative polyadenylation in human cancer. Z. Zhang.

867W    Model-based analysis of positive selection significantly expands the list of cancer driver genes. S. Zhao.

868T    Deep learning for extrachromosomal DNA detection in metaphase images. U.C. Rajkumar.

869F    Automated classification of BRCA1 and BRCA2 variants shows near perfect concordance with ENIGMA expert panel assessments. J.L. Poitras.

870W    Integrating DeepVariant into a clinical bioinformatics pipeline. L. Hon.

871T    A study of the new sentieon and edico genomics sequence data processing methods. J.M. Bell.

872F    High-state-count negative binomial hidden Markov model improves detection of copy number variation in cell-free DNA for cancer detection and response prediction. E.S. Gafni.

873W    DEFOR: Depth and frequency based somatic copy number alternation detector. H. Zhang.

874T    The transcriptome as a diagnostic aid: a pan cancer method for identifying the site of origin of complex metastases. J.K. Grewal.

875F    Regulatory mechanisms of chronic lymphocytic leukemia (CLL) risk variants in mediating target gene expression. H. Yan.

876W    Ranking on cis-eQTL selected transcription factors produces focused and accurate predictions. B.P. Kellman.

877T    A reference database of transcription factor cascades in the human genome (TFCascades.info): Implications in cancer biology. S. Piyawitwanich.

878F    Contrasting whole genome and whole exome sequencing as competing modalities for obtaining perpetual genomic data. B.G. Kermani.

879W    High-resolution mapping of cancer cell networks by co-functional gene detection. E.A. Boyle.

880T    Establishment of reference samples for the detection of somatic variants in cancer. L.T. Fang.

881F    Association of coding germline variants with relapse of prostate cancer: A PPCG study. E. Anokian.

882W    Enhanced breast cancer risk prediction from imputed gene expression enhanced breast cancer risk prediction from imputed gene expression. J. Zhou.

883T    Gene prioritization using HiChIP and eQTL in prostate cancer. C. Giambartolomei.

884F    Combining enhancer DNA methylation and RNA-seq to map gene regulatory network changes that drive chemotherapy resistance in recurrent ovarian cancer. N. Gull.

885W    Effects of structural variation on proximal lncrnas and mrnas in b-cell leukemia. C. Nodzak.

886T    Analysis of the HSF1 transcription program using clustering frameworks to predict clinical cancer endophenotypes. L. Bang.

887F    Detecting cancer vulnerabilities through gene networks under purifying selection in 4,700 cancer genomes. A. Gupta.

888W    Prognostic model for multiple myeloma progression integrating gene expression and clinical features. C. Sun.

889T    Characterization of chromosomal allelic imbalances through RNA-seq. Z. Ozcan.

890F    Alignment and analysis of xenograft transcriptomes. S. Tapas.

891W    SoVaTSiC: Somatic variant tool for single cell. A. Javed.

892T    Single-cell RNA sequencing analysis of the non-small cell lung cancer cell line after DNA demethylating agent treatment. J.W. Zeng.

893F    Role of alternative polyadenylation dynamics in acute myeloid leukemia at single-cell resolution. Q. Zhou.

894W    Genetic heterogeneity profiling by single cell RNA sequencing. Z. Zhou.

895T    Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis. E. Kim.

896F    Algorithm-driven comparison analysis of liquid biopsy samples. X. Xu.

897W    Strelka2: Fast and accurate germline and somatic variant calling. S. Kim.

898T    Measuring the effect of genetic variation at splicing junctions using a cellular fluorescence reporter system. L. Wan.

899F    Beyond the exome: Identification of novel mutational signatures and oncogenic dependencies in the non-coding genome of multiple myeloma. C. Ashby.

900W    High-content phenotyping of human genetic mutations by functional variomics. S. Yi.

901T    Magnis, a fully automated NGS sequencing-ready library preparation system. S. Bigdeli.

902F    Detection of gross rearrangements in BRCA1 by next generation mapping and long read technologies. M. Bonin.

903W    Characterizing tumor heterogeneity at single cell level. C. Catalanotti.

904T    Exploring the architecture of organoid genomes with PromethION technology. S. Goodwin.

905F    Seeing beyond the target: Uncovering germline research cohorts within targeted tumor-only sequencing data. A. Gusev.

906W    Single-cell transcriptome analysis reveals the gene exchange of cancer cells with high malignant potential and immune cells. S. Hashimoto.

907T    Metabolomic and transcriptomic profiling reveals distinct metabolomic patterns and key signalling pathways in tumour tissue of squamous cell carcinoma of the lung. L.T. Hoang.

908F    Using drug metabolizing enzymes variations in risk stratification algorithm to guide the dosing decision in Rhabdomyosarcoma pediatric patients. R. M. Labib.

909W    Selective nanopore sequencing of human BRCA1 by Cas9-assisted targeting of chromosome segments (CATCH). Y. Michaeli.

910T    Broad genomic and transcriptomic profiles of Asian breast cancer. J.W. Pan.

911F    Comprehensive detection of germline and somatic structural mutations in cancer genomes. A. Pang.

912W    Senescent tumor cells genes expression profiling in papillary thyroid carcinoma. T. Park.

913T    Linking gut microbiome function to tumour molecular pathways using metatranscriptomics. R. Purcell.

914F    Arthritis initiated by immune-checkpoint inhibitor cancer therapy is a distinct entity from seropositive rheumatoid arthritis. E.D.O. Roberson.

915W    Characterization of breast cancer samples using integrated genomics and metabolomics data. R.M. Rodrigues-Peres.

916T    Novel targeted long read approaches for uncovering undetected mutations in the BRCA1 and BRCA2 genes. J.A. Rosenfeld.

917F    Deep targeted duplex sequencing for low allele fraction variant detection. M. DeFelice.

918W    Use of molecular identifiers and targeted NGS to enable variant detection below 1% allele frequencies in circulating cell-free DNA. A. Wood.

919T    Linked read technology enables disambiguation of structural variants to PMS2 and PMS2CL. J. Van den Akker.

920F    A multi-enzyme DNA repair mix improves library quality and sequencing accuracy. M.R. Heider.

921W    Identification and correction of sample specific sequencing bias for improved copy number variant detection in fixed-cell pellet samples. J.B. Smadbeck.

922T    The NantOmics Pharmacogenomics Test: Multi-omic screening of 2,489 oncology patients. C. Schwartz.

923F    High throughput, reduction transcriptomics, using ultraplex RNA sequencing. M. Kreutz.

924W    A comprehensive cross-platform comparison of single-cell RNA sequencing using reference samples. C. Wang.

925T    Enzymatic DNA fragmentation for next generation DNA sequencing sample preparation from FFPE tissue biopsy samples. M. Borns.

926F    AmpliSeq HD: A rapid, custom NGS library prep method that enables detection of mutations present at 0.1% allelic frequency. G. Luo.

927W    Genomic analysis of somatic and germline mutations in malignant pleural mesothelioma. A. Nastase.

928T    Discovering diverse genetic biomarkers using cancer-specific targeted NGS. J. RoseFigura.

929F    Ultra-multiplexed CleanPlex® NGS panel: Comprehensive tumor profiling using a fast, single-tube protocol. L.Y. Liu.

930W    Genetic and epigenetic evidence for clonal tumor growth in sporadic parathyroid adenomas. K. Brewer.

931T    Functional mechanisms underlying the association between novel variants, their target genes and prostate cancer risk. C. Cieza-Borrella.

932F    Germline multi-gene testing in unselected endometrial cancer patients. M. Janatova.

933W    Using massively parallel reporter assay (MPRA) to simultaneously screen for functional variants at 22 common pancreatic cancer risk loci identified by genome wide association studies (GWAS). A. Jermusyk.

934T    High-density genotyping and whole-genome sequencing-based investigation of malignant pleural mesothelioma primary cells. A.K. Mandal.

935F    The identification of rare variants in Tasmanian prostate cancer pedigrees using whole-genome sequencing. K. Raspin.

936W    Integrating exome and transcriptome sequencing data revealed genes of TLR-activated MAP-Kinase signaling to be clinically important in oral cancer. R. Singh.

937T    Truncating and deleterious missense hereditary mutations in CHEK2 gene confer a significant risk for development of female and male breast cancer. L. Stolarova.

938F    Detection of somatic L1 insertions in single nuclei from cancer tissues. K. Yamaguchi.

939W    Concordance of ERBB2 amplification identification in breast primary tumors and cfDNA. Y. Zheng.

940T    Characterisation of renal cell carcinoma associated constitutional translocations by whole genome sequencing-derived structural variation analysis and literature review. PS. Smith.

941F    Using capture-C to map chromatin architecture of 24 renal cancer susceptibility regions in human cells. L. Jessop.

942W    Comparison of intra-tumor heterogeneity and clonal evolution across lung cancer subtypes by multi-region whole genome sequencing. T. Zhang.

943T    Genome-wide analysis of G4 sequences overlapped with SP1/MAZ binding sites in the human genome and their roles in gene regulation of the proto-oncogene Bcl3. V. Bansal.

944F    Methylation quantitative trait loci analysis of human primary melanocytes informs melanoma susceptibility. J. Choi.

945W    CD44 and EGFR genes expression and response to Cetuximab and Paclitaxel in oral and laryngeal cancer stem cells. L.A.M. Ferreira.

946T    Analysis of enhancer/promoter chromatin interactions in normal and cancer endometrial cell lines reveals candidate gene targets at endometrial cancer risk loci. D.M. Glubb.

947F    Identification of novel gene expression regulators using HyCCAPP. H. Guillen.

948W    Small noncoding RNAs associating with the outcome of breast cancer patients. J.M. Hartikainen.

949T    Methylation alterations in developmental and differentiation genes drive resistance to immunotherapy in a melanoma model. A. Kashef.

950F    Regulation of human telomerase reverse transcriptase (hTERT) in human glioblastoma LN18 cells. C. Lavanya.

951W    Characterizing the chromatin accessibility landscape of glioblastoma tumors at the single cell level. R. Raviram.

952T    Candidate non-coding driver mutations in super-enhancers and long-range chromatin interaction networks across >1,800 whole cancer genomes. J. Reimand.

953F    Transfer learning approaches for robust fine-mapping of putative causal regulatory variants associated with colorectal cancer. A. Shcherbina.

954W    Exploring the microRNA expression between HPV positive and negative prostate cancer cell lines. K. Tokarz.

955T    Description of novel human endogenous retrovirus-protooncogen chimeric transcripts in acute lymphoblastic leukemia. J.M. Valencia-Reyes.

956F    Integrative genome-wide analysis of long noncoding RNAs in diverse immune cell types of melanoma patients. Y. Zhang.

957W    Comparison of circulating cell-free DNA isolation methods by yield and downstream Pyrosequencing analysis. M. Poulin.

958T    A high-resolution chromatin interaction epigenomic map of prostate cancer cells. S.K. Rhie.

959F    Identifying genomic sites with highly predictable DNA accessibility. K. Wnuk.

960W    Epigenetic driven metastasis in osteosarcoma is suppressed through CDK12 inhibition. I. Bayles.

961T    Microbial metabolite butyrate affects allele-specific expression and disrupts chromatin architecture in a colon cancer cell line. M.G. Durrant.

962F    TET1-mediated 5-hydroxymethylcytosine alteration in the pathogenesis of medulloblastoma. H. Kim.

963W    Detection of epigenetic interactions using a weighted epigenetic distance-based method. Y. Wang.

964T    Integrated genomic profiling reveals cellular epigenetic normalization of salivary dysfunction following AAV2-AQP1 treatment. D.G. Michael.

965F    Non-coding RNAs underlie genetic predisposition to breast cancer. J.D. French.

966W    Characterizing DNA methylation patterns in pancreatic cancer patients. R.J. Jansen.

967T    Tumor-specific DNA methylation signatures in solid and liquid biopsies. A.C. Lau.

968F    A pilot study of DNA methylation, epigenetic age, and breast cancer risk status. R.M. Lucia.

969W    Allele-specific effects of rs12416605:C/T in miR-938 on the regulation of gastric cancer genes. Y. Espinosa-Parrilla.

970T    Patterns of X chromosome inactivation differ between tumor and normal ovarian tissue. S.J. Winham.

971F    Association of Androgen Receptor (AR) gene CAG repeat polymorphism in prostate cancer and benign prostate hyperplasia in men from India. S. Daram.

972W    A novel germline DICER1 mutation in association with thyroid and ovarian Sertoli-Leydig cell tumors. N. Settas.

973T    TNS1 gene mutations are present in sporadic phaeochromocytomas and paragangliomas. F.R. Faucz.

974F    CRISPR/Cpf1 as a tool for locus specific delivery of suicide gene in chronic lymphocytic leukemia. F.C. Lorenzetti.

975W    The Fanconi anemia proteins FANCM and FAAP24 limit BLM/Polẟ dependent telomere instability in the alternative lengthening of telomeres (ALT) pathway. M.S. Meyn.


Mendelian Phenotypes

 

976T    Unravelling the genetic mechanisms of neonatal diabetes mellitus: An Egyptian experience. R. Elkaffas.

977F    The Personalized Diabetes Medicine Program: Identification, diagnosis and treatment of monogenic diabetes. H. Zhang.

978W    High resolution ex vivo magnetic resonance imaging of the mucopolysaccharidosis I canine brain and associated white matter pathology. P. Dickson.

979T    Screening strategy to classify mutations in a rare Mendelian disease: Glycogen storage disease type 1a. K.L. Plona.

980F    Improved survival and amelioration of disease-related liver pathology in a mouse model of homocystinuria with a novel homocysteine degrading enzyme. C.L. Daige.

981W    20p11.2 deletions cause Hyperinsulinemic Hypoglycemia. T.W. Laver.

982T    Characterization of a murine model of glycogen storage disease type VI. Y. Lee.

983F    An 11-year-old with lysinuric protein intolerance presenting with xanthomas, failure to thrive, and hepatic adenomas. D.T. Segarra.

984W    Would double heterozygotes of SLC3A1 and SLC7A9 pathogenic variants symptomatic for cystine stones? A perspective from population genetics and biostatistics. C. Wu.

985T    Clinical and functional characterization of Melanocortin 4 Receptor (MC4R) variants in African-American and Hispanic children with severe early onset obesity (SECO). M.C. De Rosa.

986F    Variation in the Apolipoprotein L1 (APOL1) gene —a search for pleiotropy beyond renal disease. A. Ihegword.

987W    Confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification. P. Bauer.

988T    Common genetic variation contributes to the variable expressivity of monogenic familial hypercholesterolemia. M.T. Oetjens.

989F    Marked hypertriglyceridemia as a biochemical hallmark of familial partial lipodystrophy caused by LMNA mutations. L. Rutkowska.

990W    AAV8-mediated hLDLR gene transfer in patients with homozygous familial hypercholesterolemia: Interim analysis of the safety profile in the first 6 subjects. M. Cuchel.

991T    Genetic and dietary manipulation of stearate levels rescues a model of retinal degeneration and ER stress. R.A.S. Palu.

992F    The human transcriptional profile of Berardinelli-Seip congenital lipodystrophy. L.C. Ferreira.

993W    Distinguishing between monogenic and polygenic inheritance of extreme phenotype: Quantifying the value of family history in cases of extreme LDL-C. O. Soylemez.

994T    10-year experience with identification of cerebrotendinous xanthomatosis in newborns in Northern Israel; newborn screening followed by treatment from birth onward provides a “functional cure”. T.C. Falik-Zaccai.

995F    Homozygous mutation in USP43, a deubiquitinase gene, is linked to a novel interferon-mediated autoinflammatory disease. I. Aksentijevich.

996W    Clinical and pathophysiological characterization of a novel form of ectodermal dysplasia with anhidrosis and immunodeficiency (EDA-ID). M. Cuk.

997T    A severe case of Aicardi-Goutières Syndrome-7 with novel pathogenic variant in IFIH1. T. Kaname.

998F    Beyond whole exome sequencing--molecular diagnosis for patients of primary immunodeficiency diseases who failed to have causal mutations identified after whole exome sequencing approach. J. Yang.

999W    A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. Y. Uchiyama.

1000T    Determination of causal variants in inherited thrombocytopenias. M. Pesova.

1001F    Genetics and pathogenesis of familial multiple sclerosis. C. Vilarino-Guell.

1002W    Expedited whole exome sequencing diagnoses activated PI3K-delta syndrome-1 in an infant presenting with chronic diarrhea. J.P. Schacht.

1003T    Gene expression analysis of endothelial cells from sickle cell anemia patients and its relation with stroke. M.B. Melo.

1004F    Single cell transcriptomes of sickle cell disease PBMC identifies markers of disease severity in distinct cell populations. S. Lessard.

1005W    A new mechanism and vulnerability for fibrosis. M.A. Seman-Senderos.

1006T    Type IA isolated growth hormone deficiency due to GH1 gene complete homozygous deletion. M. Manotas.

1007F    OFD1 and autophagy: Implication for renal cystic disease. M. Manuela.

1008W    Investigating PRSS1 copy number variants showing MLPA peak height ratio sensitivity. M.J. Deshotel.

1009T    FOG2 and GATA4 haploinsufficiency is a novel cause for primary ovarian insufficiency. D. Baetens.

1010F    Germline genetic causes of pediatric Cushing’s disease: Findings in a large single-center cohort. L.C. Hernández Ramírez.

1011W    Preliminary results from whole exome sequencing in 100-sequential patients referred to Victorian KidGen Renal Genetics clinics reveals unexpected diagnoses. M. Wallis.

1012T    Chronic intestinal pseudo-obstruction: Successful genetic diagnosis through whole exome sequencing. F. Djukiadmodjo.

1013F    Pancreatic cancer in a hereditary pancreatitis kindred is associated with a mutation in a pancreatic cancer susceptibility gene. D.C. Whitcomb.

1014W    Identifying causative genetic variants of pheochromocytoma and paraganglioma by next-generation sequencing (NGS) in Taiwan. Y.T. Chou.

1015T    Genotype and phenotype correlation in Turkish Alport syndrome patients with different COL4A3, COL4A4 and COL4A5 mutations. P. Ata.

1016F    Systematic characterization of variants that affect RNA splicing to optimize assignment of precision therapies for cystic fibrosis. A. Joynt.

1017W    Natural genetic modifiers of NGLY1 deficiency suggest a role for protein homeostasis in determining inter-individual outcomes. D. Talsness.

1018T    Genetic insight into Birt-Hogg-Dubé syndrome: A rare disease in India. A. Ray.

1019F    Autosomal dominant visceral myopathy in connection with a de novo MYH11 truncating mutation. A.C. Lionel.

1020W    New digenic combinations with mutations of the genes associated with GnRH-dependent pubertal disorders contribute to variable phenotypes in idiopathic hypogonadotropic hypogonadism. A. Gach.

1021T    Novel gene defect involved in the surfactant metabolism associated with canine lethal neonatal pulmonary alveolar proteinosis. K.J. Dillard.

1022F    Characterization of candidate genes for short stature by establishing evolutionary conserved networks of human growth. C.T. Thiel.

1023W    Prevalence and treatment of OI-related hearing loss with bisphosphonates. E.M. Carter.

1024T    Isloated brachymetatarsia due to a mutation in TBX4. J. D'Alessandro.

1025F    Childhood hypophosphatasia: Painful bone marrow edema mimicking chronic recurrent multifocal osteomyelitis improved after three months of asfotase alfa enzyme replacement therapy. G.S. Gottesman.

1026W    Temporal growth trends in achondroplasia: Results from a multicenter achondroplasia registry. S. Hashmi.

1027T    Application of noncontinuously binding (loop-out) oligonucleotide primers to avoid a polyT region in the untranslated region of SHOX gene exon 1. M.A. Jama.

1028F    Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. L. Li.

1029W    Vertebral segmentation defect and hemivertebra due to rare autosomal biallelic FBN2 mutations in a Chinese congenital scoliosis cohort. M. Lin.

1030T    Bruck syndrome variant lacking congenital contractures due to novel compound heterozygous lem>PLOD2 mutations. S. Mumm.

1031F    Loss of function variants in KDM4C in Ollier disease: A methylation-dependent mechanism for tumor development. S. Robbins.

1032W    An unknown problem in a well-known disorder: OI fractures show delayed healing and increased possibility of re-fracture in murine models. J. Zieba.

1033T    Whole exome sequencing identifies known and likely pathogenic variants in a Turkish tooth agenesis cohort. R. Du.

1034F    Patient with skeletal dysplasia, importance of medical criteria in RUNX2 spectrum. J. Rojas.

1035W    Bruck syndrome, a clinical case presentation and literature review. L. Mora.

1036T    A novel mutation in NBAS causes SOPH syndrome. G.F. Godinez-Zamora.

1037F    Molecular and clinical characterization of Turkish patients with Steel syndrome. J.M. Fatih.

1038W    TBX6 missense mutations in congenital scoliosis: Expanding the mutational spectrum of a complex trait. W. Chen.

1039T    Combining large-scale in vitro functional testing with protein stability simulations to develop new insights into hypophosphatasia genotype/phenotype correlation. G. del Angel.

1040F    Multilocus genomic variants may explain the clinical heterogeneity of patients with KBG syndrome. C. Zhang.

1041W    A missense mutation of COL2A1 gene in an achondrogensis type II neonate (Case report). C.H. Lee.

1042T    Chondrodysplasia Punctata (CDPX1) presenting with respiratory distress. G.E. Tiller.

1043F    Identification of a diagnostic fusion transcript in a patient with multiple exostoses clinically negative for EXT variants. G.R. Oliver.

1044W    KIAA1217: Evidence for a novel candidate gene associated with cervical segmentation defects. N. AlDhaheri.

1045T    Diagnostic yield and clinical relevance of exome screening in patients with early-onset scoliosis (EOS). S. Zhao.

1046F    Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency. T. Kosho.

1047W    A unique COL1A2 mutation in a teenage male with patellar dislocations. E.M. Pereira.

1048T    Homozygous mutation in PLOD3, encoding lysyl hydroxylase 3, causes recessive dystrophic epidermolysis bullosa with abnormal anchoring fibrils and deficiency in type VII collagen. H. Vahidnezhad.

1049F    Reduced elastin deposition in a PI4K2A-related cutis laxa patient. E.C. Lawrence.

1050W    A pathogenic deletion of the VPS33B gene leading to a case of attenuated arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. S.S. Rabin-Havt.

1051T    Probing a novel familial giant lipomatosis syndrome with genetics. J. de Vegvar.

1052F    Exome sequencing identifies semidominant inheritance of a new GPNMB mutation in an extended pedigree with amyloidosis cutis dyschromica. A. Onoufriadis.

1053W    A novel KIT mutation in a family with expanded syndrome of Piebaldism. S. Majid.

1054T    Analysis options for human whole genome sequencing. T. Stokowy.

1055F    Novel Dsg1 mutation in focal palmoplantar keratoderma. T. Nomura.

1056W    Genetic heterogeneity in Osteogenesis Imperfecta, NGS based study. K. Salacińska.

1057T    MALTA (MYH9 Associated eLasTin Aggregation) syndrome: Germline variants in MYH9 cause rare sweat duct proliferations and irregular elastin aggregations. E. Fewings.

1058F    Characterization of vascular phenotypic variability in a non-isogenic mouse model for Marfan syndrome. I.G. Gyuricza.

1059W    A somatic activating NRAS mutation associated with kaposiform lymphangiomatosis. S.F. Barclay.

1060T    Novel ABCA12 mutations in Japanese patients with harlequin ichthyosis. M. Takeda.

1061F    Intranasal desmopressin treatment for massive subcutaneous hematoma in five patients with musculocontractural Ehlers-Danlos syndrome. N. Fujita.

1062W    Characterization of unusual DMD cases. F. Barthelemy.

1063T    EPG5 variants with modest functional impact result in an ameliorated and primarily neurological phenotype in a 3-year old patient with Vici syndrome. M.S. Kane.

1064F    Search for molecular biomarkers of spinal muscular atrophy. M.A. Maretina.

1065W    A rare variant in ABCC1 is associated with altered APP processing in a familial case of late-onset Alzheimer’s disease. W.M. Jepsen.

1066T    Strikingly high frequency of p.R132X variant identified in MMACHC gene of Indian children presenting with late-onset cobalamin C defect. S.V. Attri.

1067F    Spectrum of CBS gene variants in Indian children with classical homocystinuria: A study from tertiary care hospital. R. Kaur.

1068W    The molecular profile of degenerative cerebellar ataxias and some unique, novel genotypes from India: A journey from short PCR to NGS based diagnostics over last decade. S. Aggarwal.

1069T    A biallelic frameshift variant in a novel gene results in ataxia and dysarthria in humans. F. Aslam.

1070F    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain of function mutations in the calcium channel CACNA1G. V. Cantagrel.

1071W    Late onset hereditary dominant episodic ataxia in French Canadians. K. Choquet.

1072T    107 Tunisian patients with autosomal recessive ataxia: A clinical and genetic study. M. Hammer.

1073F    Next-generation sequence enabled diagnosis of family aggregated ataxia in an endogamic Colombian population. J.A. Tejada Moreno.

1074W    Hotspot variants in the GRIK2 kainate receptor gene are causative for neurodevelopmental disorders with diverse phenotypes. G.T. Swanson.

1075T    Functional characterization of biallelic SZT2 variants in a patient with seizures and brain abnormalities. J. Calhoun.

1076F    An intronic repeat expansion in familial ALS. M.M. Course.

1077W    Coexistence of schwannomatosis and glioblastoma in two families. C. Deiller.

1078T    Huntington disease in Africa: Emerging genetic and phenotypic differences. A. Krause.

1079F    Novel clinical and genetic insights into dysfunction of the ASC-1 complex. A. Marais.

1080W    Loss-of-function variants in the gene IRF2BPL are associated with neurological phenotypes. L.D.M. Pena.

1081T    Multi locus variation in a neurodevelopmental disease cohort with high identity-by-descent. J. Punetha.

1082F    Genetic background of unexplained full-term cerebral palsy: Genomic analysis identifies candidate pathogenic variants in 9 of 17 patients. Y. Takezawa.

1083W    AMPD2-related pontocerebellar hypoplasia type 9: A report of 12 new Egyptian families and further delineation of the spectrum. M.S. Zaki.

1084T    Opposite functional consequences of a novel de novo variant in the voltage-sensing domain of KV1.2 (KCNA2) in a case of infantile epilepsy. M. Kaneko.

1085F    The usefulness of additional clinical evaluation in patients with complex genetic testing results. E.R. Elias.

1086W    Genetic investigation of Nemaline myopathy in Middle Eastern patients. A. Haghighi.

1087T    Whole exome sequencing identifies novel mutation in ChAT gene for a lethal perinatal presentation of hydrops and arthrogryposis multiplex congenita. D. Khattar.

1088F    Expanding the phenotype of chromosome 17q21.31 duplication syndrome: Severe epilepsy and self-injuring behavior as prominent features. C.M. Lourenco.

1089W    Prodromal Parkinson´s disease in patients with 22q11.2 microdeletion syndrome: Preliminary results. G.M. Repetto.

1090T    Clinical and genomic characterization of seven novel PLP1 deletion cases reveals large-deletion syndrome specific to female cases. H. Hijazi.

1091F    The morbidity of neurofibromatosis 1: Rates and nature of hospitalizations in a population-based cohort in Denmark. J.J. Mulvihill.

1092W    Disease-associated sites in PCDH19 cluster in between cadherin domains depleted from the general population. A. Rochtus.

1093T    Genetic analysis of SMN in SMA pedigrees. F. Song.

1094F    Variant pathogenicity evaluation through the community-driven Inherited Neuropathy Variant Browser. D. Bis.

1095W    Improvements in arginase 1 deficiency-related disease manifestations following plasma arginine reduction with pegzilarginase: Early phase 2 results. R.T. Zori.

1096T    Genetic causes of epilepsy with migrating focal seizures in infancy in a new large cohort of patients. G. Barcia.

1097F    A novel variation in X-linked inherited IQSEC2 from a three-generation Korean family with Lennox-Gastaut syndrome and mental retardation. M. Choi.

1098W    Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy that associates with risk of sudden death. B. Chung.

1099T    A candidate gene for progressive myoclonic epilepsy in a Malian family. M.E. Dembélé.

1100F    Pyridoxal phosphate-dependent neonatal epileptic encephalopathy: Clinical case. T.V. Kozhanova.

1101W    Infantile catastrophic epilepsy caused by a de novo tryptophan to arginine mutation in a transmembrane region of ATP1A1. A. Lindstrand.

1102T    Towards the elucidation of the genetic architecture of autosomal dominant lateral temporal epilepsy. C. Nobile.

1103F    Autophagy and awakening grand mal seizures in JME. M. Tanaka.

1104W    Novel variants causing inherited leukodystrophies in Sudanese families. M. Amin.

1105T    Effects of long-term eteplirsen treatment on upper limb function in patients with Duchenne muscular dystrophy: Findings of two phase 2 clinical trials. L.N. Alfano.

1106F    CRISPR/Cas9 preclinical studies in patient-derived FOXG1 mutated cells. S. Croci.

1107W    Exploring the potential of CRISPR/Cas9 for the treatment of Pelizaeus-Merzbacher disease. E. Maino.

1108T    Research genomics expands the genetic etiology and phenotypic spectrum of rare pediatric conditions. D.C. Koboldt.

1109F    Mutations in PIGS encoding a GPI transamidase protein cause a neurological syndrome ranging from fetal akinesia to epileptic encephalopathy. N.V. Baratang.

1110W    Clinical whole genome sequencing (WGS): A precision genomic approach to solving “diagnostic odysseys”. S.P. Shankar.

1111T    Relaxation of selective constraints on mitochondrial genome correlates with progression of Huntington’s disease. Y. Wang.

1112F    A new case of an intermediate phenotype along the spectrum of ATP1A3-related neurological disorders. L. Fernandez.

1113W    Predicting pathogenicity and functional effects of missense variants in voltage-gated sodium and calcium channels. H.O. Heyne.

1114T    Mutations nature and sex modify hereditary spastic paraplegia type 4 age at onset. L. Parodi.

1115F    NEDDFL syndrome due to an apparently balanced translocation t(1,17)(q24.3;q24.2) disrupting BPTF in a 35-year-old man. P. Stankiewicz.

1116W    Predictive modeling implicates threonyl-tRNA synthetase (TARS) in axonal peripheral neuropathy. R. Meyer.

1117T    Accurate molecular detection and functional validation of PI3K-AKT-MTOR pathway in focal malformations of cortical development: Novel genetic insights. G. Ruggeri.

1118F    De novo mutations in TMEM63A result in transient hypomyelination during infancy. C. Simons.

1119W    A novel de novo frameshift mutation in KAT6A identified by whole exome sequencing. A. Alkhateeb.

1120T    De novo variants affecting autoinhibition of Calcium/calmodulin-dependent protein kinase II, cause neurodevelopmental disorders. H. Saitsu.

1121F    Treatment in Niemann Pick type C patients with a HSP amplifier, arimoclomol: Results from an observational study and follow-on randomized placebo-controlled double-blind interventional trial. E. Mengel.

1122W    Inherited peripheral neuropathies: Analysis of PDXK gene identifies a new treatable disorder. V. Chelban.

1123T    Molecular analysis and functional characterization of mutations in Niemann-Pick disease type A and type B in Indian patients. D. Deshpande.

1124F    Clinical features of arginase 1 deficiency: Review of literature case series. G.A. Diaz.

1125W    Oral plasmalogen precursor, PPI-1040, improves plasmalogen levels and hyperactivity in a Pex7 deficient mouse model of Rhizomelic Chondrodysplasia Punctata type 1 (RCDP1). W. Fallatah.

1126T    Expansions of intronic TTTCA and TTTTA repeats in three genes cause benign adult familial myoclonic epilepsy. H. Ishiura.

1127F    A novel disease gene DTMPK identified in 2 siblings with mitochondrial DNA depletion syndrome. C. Lam.

1128W    Defining the natural history of cognition in type 3 Gaucher disease. A.M. Steward.

1129T    Replication of MIR149 association with onset age and severity of CMT1A in a European population. F. Tao.

1130F    Identification of pathogenic variants of DMD gene in Indian Backers Muscular Dystrophy: A comparison to the DMD spectrum. A. Anand.

1131W    Wide range of phenotypic variability caused by missense variants in NARS2 gene. L. Kalfon.

1132T    Peripheral neuropathies: Application of targeted next generation sequencing for Lithuanian patients cohort. B. Burnyte.

1133F    Parkinson’s disease age of onset GWAS: Defining heritability, identifying genetic loci, implicating synuclein mechanisms. C. Blauwendraat.

1134W    Leveraging consanguinity in essential tremor families from Turkey to identify candidate genes. L. Clark.

1135T    Whole genome sequencing of a large Lewy Body dementia and Frontotemporal dementia cohort for genetic discovery: A public resource for the research community. C.L. Dalgard.

1136F    Two Japanese familial cases of C9ALS/FTD complex in Fukuoka prefecture, Northern Kyushu Island, Japan. H. Furuya.

1137W    Reduced penetrance of SOD1 p.Ala90Val mutation in Finnish ALS patients. L. Kuuluvainen.

1138T    Sequencing of the GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease. F. Vairo.

1139F    Whole exome analyses discover risk factors for familial dystonia. R. Yadav.

1140W    Exome first: An efficient approach to diagnosing inherited white matter disorders. P. Kaur Bhullar.

1141T    Proband-only exome sequencing in small families with late onset hereditary neuropathy. M.K. Ndugga-Kabuye.

1142F    6-year-old girl with autism and de novo missense variant in NECTIN3. J. Pappas.

1143W    Evaluation of a 12 lysosomal storage disorder gene panel in a Parkinson’s disease cohort. L.J. Racacho.

1144T    DMD gene specific shorter dystrophin isoform’s (Dp140) association to the working memory: A novel IBLT strategy based validation. R. Tyagi.

1145F    Depletion of the mRNA export factor GANP underlies axonal neuropathy and intellectual disability. R. Woldegebriel.

1146W    A novel ABCD1 gene mutation unveil a Colombian female carrier with adrenomyeloneuropathy and a family history of adrenoleukodystrohpy. F. Suarez.

1147T    CYP2C9 alleles are associated with patient-centered prescribing outcomes in a real-world patient population undergoing phenytoin treatment. A.E. Fohner.

1148F    Major intra-familial phenotypic heterogeneity and incomplete penetrance due toa CACNA1A pathogenic variant. J. Van Gils.

1149W    Usefulness of whole exome sequencing: De novo PURA gene pathogenic variant. E.M. Albino.

1150T    MAPT p.V363I mutation is a rare cause of corticobasal degeneration. S. Ahmed.

1151F    Chemical suppressors of nonsense mutations as potential treatment for NGLY1-related disorder. A. Baradaran-Heravi.

1152W    Genetic study of patients with lipoid proteinosis, a disease of medial temporal lobe calcification and skin manifestations. S. Geiler.

1153T    The Adult NCL Gene Discovery Consortium (The Kufs Consortium). I. Jedličková.

1154F    Pathogenic missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability. S. Ehresmann.

1155W    Pilarowski-Bjornsson syndrome: A novel cause of speech apraxia and neurodevelopmental delay. G. Pilarowski.

1156T    Expanding the phenotype and recommendations for management in KMT5B-associated neurodevelopmental disorder. S. Sheppard.

1157F    MAP1B mutations cause intellectual disability and extensive white matter deficit. G.B. Walters.

1158W    Case report of a Colombian patient with Wiedemann-Steiner Syndrome (WDSTS). A. Paredes.

1159T    An 8-year-old girl with Pitt-Hopkins syndrome: New features and differential diagnosis of developmental delay in Colombia. J. Prieto.

1160F    Evidence that biallelic loss-of-function variants in FBXL3 cause developmental delay/intellectual disability, facial dysmorphism and short stature. P. Makrythanasis.

1161W    Expanding the phenotype of MED13L-associated mental retardation and distinctive facial features with or without cardiac defects; MRFACD. MJ. Hajianpour.

1162T    Novel mutation in KDM6A gene associated with Kabuki syndrome type 2: Expanding literature on a rare condition. E.M.G. Gershon.

1163F    Causative novel USP9X variants in two Japanese patients with X-linked intellectual disability. Y. Tsurusaki.

1164W    Triplet repeat primed PCR (TP-PCR) test for fragile X syndrome: Accuracy and efficiency evaluation as an alternative to conventional diagnostic methods. H. Gu.

1165T    Paralog studies for disease gene identification: DDX and DHX genes. I.S.. Paine.

1166F    Whole genome sequencing analysis of rare variants in 475 individuals with neurodevelopmental disorders. A. Sanchis-Juan.

1167W    Recurrent de novo missense variation in the GTP/GDP-binding region of RALA is associated with a novel neurodevelopmental disorder. M.B. Neu.

1168T    36 novel recessive candidate genes for intellectual disability and visual impairment in 269 consanguineous families. S.E. Antonarakis.

1169F    Phenotypic expansion of POGZ-related disorders (White-Sutton Syndrome). N. Assia Batzir.

1170W    De novo mutations in the RNA helicase DDX6 cause intellectual disability and dysmorphic features by disrupting p-body assembly and RNA regulation. C. Balak.

1171T    De novo truncating mutations HNRNPR gene cause a new syndrome with intellectual disability and microcephaly. A. Bruel.

1172F    The GeJo-ARID project: Identification of new genes in individuals with intellectual disability. R. Buchert.

1173W    De novo variants in the F-Box protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder. A. Gregor.

1174T    Systematic scoring of candidate genes for neurodevelopmental disorders has a higher yield than large meta-analyses. R. Jamra.

1175F    Two novel mutations in DYRK1A gene cause microcephaly and learning difficulties. WT. Keng.

1176W    Expanding the spectrum of BAF-related disorders – de novo variants in SMARCC2 cause a syndrome with intellectual disability, developmental delay and growth retardation. K. Machol.

1177T    A novel X-linked dominant mutation of MED12 causes Ohdo syndrome in a female patient. H. Murakami.

1178F    Novel biallelic mutations in SZT2 cause mild intellectual disability and epilepsy: Expanding the phenotypic spectrum. Y. Nakamura.

1179W    The first report on a patient with OGT catalytic core mutation causing O-GlcNAc transferase defect. K. Ounap.

1180T    Molecular analysis of CC2D1A and PRSS12 genes in affecteds with cognitive dysfunction. I.G. Rasool.

1181F    Three individuals with neurodevelopmental disorders caused by heterozygous protein- truncating variants in KMT5B. K. Takano.

1182W    Targeted next-generation resequencing analysis in 105 Japanese subjects with undiagnosed intellectual disability and multiple congenital anomalies. D.T. Uehara.

1183T    Expanding phenotypes of patients with constitutional pathogenic variants in KAT6A: Four patients with syndromic intellectual disability. T. Uehara.

1184F    Identifying disorder-specific methylation signatures in patients with severe developmental disorders. J.E. Handsaker.

1185W    Learn as we go: Studying Xia-Gibbs Syndrome through a disease specific registry and community engagement. Y. Jiang.

1186T    De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. D. Chitayat.

1187F    Next generation phenotyping of 7,697 individuals with intellectual disability. S. Jansen.

1188W    Novel c.5535-1G>A variant in a patient with a mild features of CHARGE syndrome. E. Siavriene.

1189T    3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency presenting with rhabdomyolysis. E.E. Conboy.

1190F    A multicenter, double-blind, placebo-controlled, multiple-dose study assessing the safety and efficacy of MNK-1411 in patients with Duchenne muscular dystrophy. B.R. Due.

1191W    Persistent metabolic abnormalities and hypertrophic cardiomyopathy in a patient with multiple acylcoA dehydrogenase deficiency associated with a frameshift variant in SLC52A1. R.M. Zambrano.

1192T    Synergistic effect of mutations in dystroglycanopathies-associated genes? A Brazilian case report. M. Lazar.

1193F    KI/KO mice carrying a BAG3 mutation homologous to the human P209L myofibrillar myopathy mutation develop a clinical and pathological skeletal muscle phenotype. R. Robertson.

1194W    Dilated cardiomyopathy: A novel finding in a patient with ADSSL1-related myopathy. D. Bonner.

1195T    Homozygous recessive mutations in the myogenic factor MYF5 cause a novel syndrome characterized by external ophthalmoplegia, rib, and vertebral anomalies. S.A. Di Gioia.

1196F    Possible effect of sarcolemmal complex genes on the phenotype of Duchenne muscular dystrophy. M. Garcia-Acero.

1197W    Recurrent rhabomyolysis and hyperCKemia: Consideration of broad molecular testing such as WES/WGS is indicated due to the broad differential of conditions. L. Massingham.

1198T    Diagnosis of congenital myopathies through exome sequencing and a collaborative analysis platform. Z.M. Valivullah.

1199F    Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. M. Almannai.

1200W    Expanding the clinical spectrum of EARS2-associated mitochondrial disease. P. Prasun.

1201T    In-Vivo oxidation of 1-13C-propionate as a surrogate endpoint for clinical outcomes in propionic acidemia. O. Shchelochkov.

1202F    miR-181a/b downregulation protects from mitochondria-associated neurodegeneration. B. Franco.

1203W    Characterizing mtDNA variants from 10,000 germline exomes. A. Bolze.

1204T    Multi-omics analyses and functional studies in a new model of Barth syndrome and in patient derived cells uncover novel mechanisms of pathogenesis and potential targets for therapeutic intervention. A. Franca Anzmann.

1205F    Deletion in mitochondrial peptidase results in lethal juvenile brain disorder with status epilepticus in dogs. M.K. Hytonen.

1206W    Atypical mitochondrial Leigh syndrome associated with a novel MT-ATP6 gene variation. E. Rai.

1207T    Non-coding variants in MECR: Case report and molecular phenotype. J.N. Kohler.

1208F    Preclinical efficacy of systemic messenger RNA (mRNA) therapy as a treatment for propionic acidemia. L. Jiang.

1209W    A splice mutation in ATP11A causes progressive sensorineural hearing loss and maps to the DFNA33 locus. J.A. Pater.

1210T    Unraveling the genomic and mutational complexity of syndromic and non-syndromic deafness. H. Azaiez.

1211F    Usher syndrome diagnostics in the genomics era: Successes, challenges and opportunities. K.T. Booth.

1212W    Genetic heterogeneity of hearing loss in sporadic cases from Pakistan. M. Ramzan.

1213T    “Enhancing” the DFNB1 locus: Targeted sequencing and functional characterization of non-coding elements affecting GJB2 expression. S. Rentas.

1214F    Genomic characterization of hereditary sensorineural hearing loss in the Louisiana Acadians and Mexican Mayans. A. Umrigar.

1215W    Expansion of the phenotype associated with variants in the cilium intraflagellar transport RAB28. C. Jespersgaard.

1216T    Autosomal recessive non-syndromic keratoconus: Homozygous frameshift variant in the candidate novel gene GALNT14. T. Froukh.

1217F    Biallelic CPAMD8 variants associated with congenital glaucoma and anterior segment dysgenesis. E. Souzeau.

1218W    The PMEL gene and merle in the domestic dog: A continuum of insertion lengths leads to a spectrum of coat color variations in Australian shepherds and related breeds. B.C. Ballif.

1219T    Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease. S. Van de Sompele.

1220F    Identification of genetic causes of paediatric cataracts, including novel cataract genes, achieved using whole genome sequencing and linkage analysis. J.L. Jones.

1221W    Two candidate genes for rare cases of autosomal recessive non-syndromic hearing impairment in the gene loci DFNB33 and DFNB81. R. Birkenhager.

1222T    Novel mutations of SCN9A gene in patient with congenital insensitivity to pain identified by whole genome sequencing. G.B. Christensen.

1223F    A novel CRYGD gene mutation loci results in non-syndromic autosomal dominant congenital cataract and high myopia in a Chinese family. R. Zheng.

1224W    Punctiform and polychromatic pre-Descemet corneal dystrophy: Report of two families, clinical findings, and the identification of a segregating intronic variant using whole-exome sequencing. D.D. Chung.

1225T    Disparities in discovery of pathogenic variants within autosomal recessive non-syndromic hearing impairment by ancestry. I. Chakchouk.

1226F    A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1. K. Grønskov.

1227W    The mutation detections in two Chinese families with aniridia. M. Gu.

1228T    Novel genes implicated in rare congenital inner ear and cochleovestibular nerve malformations. I. Schrauwen.

1229F    miR-204 overexpression exerts a protective role in inherited retinal diseases. S. Banfi.

1230W    Lack of association between CTG repeats in the DMPK gene and audiological and vestibular findings. M. Arenas-Sordo.

1231T    A patient with early-onset high myopia caused by a homozygous mutation in FAM161A. A. Bouman.

1232F    A heterozygousheterozygous variant p.S319G c.955 A>G of DNMT3A causing Tatton-Brown-Rahman in a mother and son. A. Tsai.

1233W    A novel neurogenetic syndrome with RALA mutation. N. Okamoto.

1234T    A recognizable specific facial phenotype during adolescence and early adulthood in three unrelated patients with Dravet syndrome. M.K. Thong.

1235F    A new SMARCE1 variant in a patient with oculoauriculofrontonasal syndrome. S. Yano.

1236W    Proposed clinical diagnostic criteria for Myhre syndrome: Preparation for evidence-based guidelines. L.J. Starr.

1237T    Adopting a gene through Human Disease Genes website series facilitates a clinical diagnosis for rare genetic disorders. B.B.A. de Vries.

1238F    22q11.2 deletion syndrome: An update from the 22q and You Center at the Children’s Hospital of Philadelphia. I.M. Campbell.

1239W    Germline KRAS mutation-related schwannomatosis. M. Serey.

1240T    De novo PHF6 mutation in a girl with Borjeson-Forssman-Lehmann syndrome. Y. Kuroda.

1241F    Molecular findings of 21 Brazilian patients with Cornelia de Lange syndrome. J.R.M. Ceroni.

1242W    A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. S. Htun.

1243T    A 1.9 MB interstitial deletions of 10q23.2q23.31 in a boy with juvenile polyposis. H. Numabe.

1244F    A novel variant in REN explains a familial case of congenital anomalies of the kidney and urinary tract (CAKUT). A.A. Dilliott.

1245W    CHARGE syndrome with atypical clinical phenotypes diagnosed by whole exome sequencing. H. Pang.

1246T    Expanding the clinical spectrum of KDM6A-associated Kabuki syndrome. C.T. Myers.

1247F    KBG syndrome diagnosed in a 4-month-old infant with failure to thrive caused by deletion of the ANKRD11 gene . H. Wang.

1248W    Mechanistic basis of Takenouchi-Kosaki syndrome: Electron microscopic studies of platelets in patients and functional studies in model organisim. T. Takenouchi.

1249T    Deleterious mutation of NSD1 gene in a Senegalese patient with SOTOS syndrome. R. Ndiaye Diallo.

1250F    Complete spectrum of PIK3CA mutations in isolated lymphatic malformations. C.V. Cheng.

1251W    Personalized medicine in rare diseases and cancer: A case report of a lasting response in a young teenage patient with Proteus syndrome and secondary ovarian cancer. C. Leoni.

1252T    SUZ12 related overgrowth. W.T. Gibson.

1253F    Identification and validation of variants of uncertain significance in novel candidate genes for 46, XY disorders/differences of sex development (DSD). A. Parivesh.

1254W    IDH1 and IDH2 mutations in a cohort of patients with Ollier disease and Maffucci syndrome. E.S. Partan.

1255T    A familial novel whole CDKN1C gene deletion in siblings with Beckwith-Wiedemann syndrome and Dandy-Walker malformation. D. Aljeaid.

1256F    A de novo gain-of-function mutation in MYCN causes a novel megalencephaly syndrome. K. Kato.

1257W    Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. A. Shalata.

1258T    Association of hydrocephalus and renal dysplasia with a homozygous DLG5 frameshift variant in an alternatively spliced exon. F. Vogel.

1259F    De novo structural and single-nucleotide variants (SNVs) underlying associations between birth defects and childhood cancers: An assessment from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study. H. Li.

1260W    Missense variants in PLS3 in patients with X-linked congenital diaphragmatic hernia. F. Petit.

1261T    Mutation spectrum of the KMT2D gene for the Kabuki syndrome in Korea. Y. Yeon.

1262F    Dual diagnoses: The first 400 patients of the CAUSES Research Study. A.M. Elliott.

1263W    Integrated sequence analysis approaches improve genomic diagnosis of birth defects. K. Meltz Steinberg.

1264T    Failure to detect germline pathogenic variants in mTOR pathway (PIK3CA-AKT-mTOR) does not exclude a clinical diagnosis. A case report. A.I. Sanchez.

1265F    Identification of potential regulatory variants causing Branchio-Oto-Renal syndrome in an extended pedigree using Whole Genome Sequencing (WGS). P.A. Sanchez-Lara.

1266W    Intra-familial variable expressivity of orofaciodigital syndrome type 1 in three generations of French Canadian family. S.A. Basalom.

1267T    Post-natal correction of a BBsome gene, Bbs8, rescues fertility in a mouse model of Bardet-Biedl syndrome. M.R. Cring.

1268F    Expanding the phenotype of CEP55-related disorders: A case report. R. Mostafavi.

1269W    Whole exome sequence identified the deletion in 5' UTR or upstream intronic region of CREBBP in a patient with Rubinstein-Taybi syndrome. Y. Enomoto.

1270T    Alterations in TANGO2 on the intact chromosome 22q11.2 allele as a possible cause of sudden death. D.M. McDonald-McGinn.

1271F    Multiple de novo genes variants: A frequent issue in homozygous admixed Puerto Rican (Hispanic) population. A.S. Cornier.

1272W    Using deep phenotyping to refine the association of location of XPD mutations with function. G.W. Nelson.

1273T    TAB2 deletion syndrome in a female with cardiac abnormality, short stature and normal intelligence. M.C. van Rij.

1274F    Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants. H. Wang.

1275W    Whole exome sequencing in a patient with congenital developmental abnormalities reveals a variant within PDGFA, a gene of uncertain significance as likely causal. A. Gupta.

1276T    Diagnostic dilemmas in the next-generation sequencing era: Novel Mendelian phenotype, blended phenotype or phenotypic expansion. M. Muriello.

1277F    Effective use of off-target reads in evaluation of copy number variation from aligned exome data: Validation study in 325 undiagnosed patients. H. Suzuki.

1278W    Singleton exome strategies in under-represented populations. E. Ullah.

1279T    Treatment of the FXTAS and FXPOI mouse model with the antioxidant tempol. I. Gazy.

1280F    Chronic atrial and intestinal dysrhythmia syndrome: Expanding the phenotype of SGOL1 gene mutations. C. Baquero Montoya.

1281W    Addressing missing heritability in rare genetic diseases. M. Tarailo-Graovac.

1282T    The prevalence of suspected pathogenic mutations for early and adult onset dominant disorders in a healthy Israeli population. S. Tzur.

1283F    Biallelic variants in CBL in brothers with intellectual disability and Noonan-like syndrome. G. Gotway.

1284W    Genotype-phenotype correlation of mutations in PIGN causing Fryns syndrome, MCAHS and neurological phenotypes. U. Kini.

1285T    When two is worse than one: Machine-learning-based identification of digenic disease genes based on network and genomic data. S. Mukherjee.

1286F    MCM3 and MCM7: New causative genes underlying Meier-Gorlin syndrome. K.M. Knapp.

1287W    Cysteinyl-tRNA synthetase (CARS) mutations cause a multi-system, recessive disease phenotype that includes tissues dependent on cysteine. M.E. Kuo.

1288T    Severe PI3Kinase overgrowth syndrome treated with the AKT inhibitor miransertib. A.D. Irvine.

1289F    Mutations in mTOR and MAPK pathways cause heterogeneous lymphatic anomalies. D. Li.

1290W    Characterization of lymphatic anomly-associated mutations in a cell model system. M.E. March.

1291T    Conservative management of pseudoanodontia of two cases of GAPO syndrome and Cleidocranial dysplasia. M.I. Mostafa.

1292F    Both hetero- and homozygote IDDCA syndrome-associated G-protein β-subunit 5 knockout mice demonstrate heart rate perturbation and cardiac dysfunction. P. De Nittis.

1293W    A Japanese patient with a novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation. N. Miyake.

1294T    Study of genetic defects in patients with malformations affecting digits. A. Rai.

1295F    Mutation spectrum and phenotypic features of Asian patients with clinical suspicion of Noonan syndrome. E.C. Tan.

1296W    Mouse model of Costello syndrome: Impaired hepatic energy homeostasis and resistance to high-fat diet induced obesity in mice with a heterozygous Hras G12S mutation. D. Oba.

1297T    Mutation spectrum and clinical manifestations in low-mosaic patients with Tuberous Sclerosis Complex (TSC). K. Giannikou.

1298F    Phenotypic and mutational spectrum of twenty-six Egyptian patients with Sjögren-Larsson syndrome: Identification of novel and founder ALDH3A2 gene mutations. M.S. Abdel-Hamid.

1299W    Identification of new sequence variants in rare-genetic disease-causing genes using high-throughput DNA sequencing. M.C. Ergoren.

1300T    Short rib polydactyly with Joubert syndrome associated with a novel KIAA0753 mutation: Expanding the phenotype of skeletal ciliopathies. S. Albanyan.

1301F    Characterization of an emerging X-linked trichothiodystrophy due to a novel truncating variant in RNF113A. D.T. Beleford.

1302W    Craniofrontonasal syndrome caused by introduction of a novel uATG in the 5′UTR of EFNB1. V.L. Romanelli Tavares.

1303T    Argininosuccinic aciduria in Korean population: Its low prevalence among the Urea cycle disorders. G. Kim.

1304F    Farber disease (acid ceramidase deficiency): Patient demographics from an ongoing natural history study. A. Solyom.

1305W    Our genematcher data sharing experience: 10 days on average to confirm the pathogenicity of a candidate gene. C. Thauvin-Robinet.

1306T    Two novel FOXC2 gene mutations result in autosomal domain hereditary diistichiasia in Chinese families. L. Jiang.

1307F    Retrospective examination of the clinical utility of clinical whole genome sequencing in the Illumina iHope program. A. Malhotra.

1308W    Homozygosity stretches around homozygous mutations for autosomal recessive disorders in patients from non – consanguineous families from India: Inheritance by descent is common. S.R. Phadke.

1309T    Novel structural variants originating in F8 non-coding regions explain previously unresolved cases of severe hemophilia A. M.M. Wheeler.

1310F    Illumina Clinical Services Laboratory contributions to the ClinVar and ClinGen knowledge bases. S. Schmidt.

1311W    Using UK Biobank to assess the pathogenicity, penetrance and expressivity of monogenic disease variants. M.N. Weedon.

1312T    Explaining the unexplained with genetics: Patients with bronchiectasis have a higher frequency of pathogenic variants linked to the disease. J. Bastarache.

1313F    Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulo-interstitial kidney disease. M. Zivna.

1314W    Whole exome sequencing is essential for defining emerging phenotypes and providing diagnoses in underserved populations. S. Rego.

1315T    New strategies for analyzing exomes from patients with rare and unknown disorders. K. Schmitz-Abe.

1316F    Novel gene discovery through an undiagnosed disease program in East Asian. C. Law.

1317W    Genomic sequencing reveals previously unrecognized phenotypes in a high proportion of those with unanticipated monogenic disease risk. M.S. Lebo.

1318T    Mutations in the CFAP-coding genes lead to male infertility with multiple morphological abnormalities of the sperm flagella. W. Li.

1319F    Expanded analysis of Lyso-Gb3 and Lyso-Gb3 analogs for the diagnosis of Fabry disease. M. Schultz.

1320W    Identification of protein features associated with Mendelian disease variants. S. Iqbal.

1321T    Stratifying loss-of-function variants in genome sequencing cohort. A.E. Katz.

1322F    Initiative on Rare and Undiagnosed Diseases in Pediatrics (IRUD-P) in Japan: Statistics of 1st stage for three years. Y. Matsubara.

1323W    The Rare Genomes Project: Improving our ability to diagnose rare genetic conditions through a nationwide partnership with families. C.E. Williamson.

1324T    Duarte galactosemia: Shedding new light on an old problem. J.L. Fridovich-Keil.

1325F    Oligogenic obesity: An explanation for apparent variable penetrance of an SH2B1 mutation. S. Almansoori.

1326W    Interallelic interactions in autosomal recessive disorders: A population-genetic and a molecular approach. A. Miko.

1327T    Residual function of cystic fibrosis mutants predicts therapeutic response. S.T. Han.

1328F    Reassessing the pathogenicity of RYR1 autosomal dominant variants with modified ACMG criteria. D. Ng.

1329W    Preliminary findings from the Colorado Center for Personalized Medicine Biobank. N. Rafaels.

1330T    Discovery of URAT1 and GLUT9 novel variant in hypouricemia subjects using whole exome sequencing analysis. S. Cho.

1331F    Inherited retinal dystrophy (IRD) pedigrees with complex genetic causality. P. Biswas.

1332W    Challenges to increasing the rate of Mendelian disease gene discovery. J.X. Chong.

1333T    Stratification by organ systems and phenotypes in rapid genomic testing results in differences in diagnostic rates. T. Wong.

1334F    FMR1 premutation women: High rate of reported co-morbid health conditions with an earlier onset among those with FXPOI. E.G. Allen.

1335W    A systematic analysis of De Novo mutations in 837 trios with clinical suspicion of Mendelian phenotypes. Z.H. Coban Akdemir.

1336T    Using phenome risk scores to systematically test the hypothesis that genetically determined expression of Mendelian genes associate with Mendelian phenotypes. J. Brown.

1337F    Identification of rare-disease genes from whole blood RNA-seq of diverse undiagnosed cases. L. Fresard.

1338W    Mild Canavan disease presenting with ocular migraines and atypical brain MRI. P. Tanpaiboon.

1339T    Clinical naming of genetic phenotypes provides unique insights into molecular mechanisms and disease etiology. A. Hamosh.

1340F    VariantMatcher: Community-based genomic variant matching to identify new Mendelian disorders. E. Wohler.


Bioinformatics and Computational Approaches

 

1341W    Synthetic RNA-seq data for intervention and drug discovery by conditional generative adversarial networks. M. Xiong.

1342T    Discovery of obesity-associated noncoding causal variants based on convolutional neural networks. J. Oh.

1343F    An Omics Analysis, Search and Information System (OASIS) for enabling discovery in the TOPMed diabetes working group. J.A. Perry.

1344W    AMP-T2D: Federated analysis and discovery of genetic variants with association to type-2 diabetes. J.D. Spalding.

1345T    Retrospective electronic medical record analysis identifies patients at risk of hypophosphatasia and illustrates paucity of family history information. C. Peroutka.

1346F    A comparison ofclassical integration methods applied on multi-omics data. Y. Zhang.

1347W    Integration and visualization of phenotype-genotype data and drug response in diabetes mellitus patients using the Diabetome™Knowledgbase. H. GH.

1348T    Multi-resolution association analysis for exome-wide sequencing. E. Katsevich.

1349F    Adaptive combination of Bayes factors method as a powerful polygenic test for gene-environment interactions when external information is unavailable. W. Lin.

1350W    Prioritizing environment-environment interactions using clarite. N. Palmiero.

1351T    Mining publicly available gene expression data in hunt for novel biomarkers for rheumatoid arthritis. D. Rychkov.

1352F    Typing highly divergent genes (HLA/KIR) from large-scale next-generation sequencing projects. S. Tian.

1353W    CRISPResso2: Characterization of repair outcomes and allele specific analysis from CRISPR nuclease and base editor genome editing. K. Clement.

1354T    Machine learning classifiers for chronic fatigue syndrome using immune cell specific RNA-seq. P. Comella.

1355F    A computational approach to identify novel disease-causing genes from exome sequencing. S. Rana.

1356W    An application of ChARMDiff to discover epigenetic difference between CD4 memory and navie primary cells. S. Park.

1357T    The NIAID clinical genomics data repository, Genomic Research Integration System (GRIS): Streamlined data capture, standardization, integration, and analysis to enable identification of immune-related genetic variants for clinical reporting and genomics research. S. Xirasagar.

1358F    BREATH: An open-access database of normal lung development generated by the molecular atlas of lung development program (LungMAP). R.F. Clark.

1359W    Deep recurrent neural networks for accurate variant calling in 21-hydroxylase-deficient congenital adrenal hyperplasia. A. Ganesh.

1360T    Predicting the time-to-event outcome of cystic fibrosis related diabetes using genotype data. Y. Lin.

1361F    Development of the BiomedScrape data-mining suite for deep semantic structure-based drug repurposing for DMD: A pilot feasibility study. J.W. Ulm.

1362W    A 29-gene signature predicts progression to active tuberculosis in exposed household contacts. Y. Zhao.

1363T    From GWAS to the cross-phenotype neighborhood of diseases in the interactome: Network-based pathway prioritization identifies concordant and discordant pathways between COPD and IPF. A. Halu.

1364F    An application of genetic algorithm based Naive Bayesian classifier in metabolomics profiling. K. Su.

1365W    Integrating regulatory features for large-scale transcriptome-wide association study from GWAS summary statistics identified novel genes for osteoporosis. S. Yao.

1366T    Integrative analysis of clinical and molecular data on a well-phenotyped lupus cohort identifies distinct molecular subtypes. I. Paranjpe.

1367F    Development and validation of algorithms using electronic health records to identify azathioprine use and azathioprine-induced leukopenia for pharmacogenetic studies. A. Dickson.

1368W    Computational prediction and molecular validation of novel therapeutic targets for potent splicing modulators. D. Gao.

1369T    Meta-analysis of gene expression variability in Alzheimer’s disease. L.R.K. Brooks.

1370F    VCPA: Genomic variant calling pipeline and data management tool for Alzheimer's disease sequencing project. Y. Chou.

1371W    NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) Alzheimer’s genomics database: 2018 update. E. Greenfest-Allen.

1372T    Integration of deep learning and causal discovery for medical image semantic segmentation and their application to longitudinal neuroimage data for Alzheimer’s disease. Y. Liu.

1373F    NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): Update 2018. O. Valladares.

1374W    Genotyping of variable number tandem repeats with adVNTR. M. Bakhtiari.

1375T    A minimally-supervised case-control classifier based on integrative deep-learning. B. Henning.

1376F    Methods for genotype-based risk prediction for complex neuropsychiatric disorders. Z. Yang.

1377W    Variation among intact tissue samples reveals the core transcriptional features of human CNS cell classes. K.W. Kelley.

1378T    Comparative analysis of gene prioritization tools for neuromuscular disorders. P.S. Lai.

1379F    Molecular modeling, informatics, and pathway prediction of varying complex biological systems for drug repositioning, repurposing, and rescue. K. Nguyen.

1380W    Automated extraction of multiple sclerosis treatment timelines: Preparing free-text electronic health record data for use in pharmacogenetic analyses. J.T. Beales.

1381T    Target gene notebook: Putting genetics to work for drug discovery. M.P. Reeve.

1382F    Using model predictions as quantitative traits to expand cohort size for heritability estimation and genetic studies. P.M. Thangaraj.

1383W    Identifying splice alterations using RNAseq to improve genetic diagnosis for rare Mendelian disorders. H. Lee.

1384T    Repeat expansion detection with whole exome sequencing data. M. Bahlo.

1385F    Tackling heterogeneity using network based stratification in autism spectrum disorders. Y. Kim.

1386W    Detecting inherited deletions in whole genome sequencing data using family structure. K.M. Paskov.

1387T    Comparison of tools for RNA-Seq differential gene expression analysis of small, heterogeneous effects requiring large sample sizes. C. Armoskus.

1388F    DISTMIX2: Direct imputation of summary statistics from mixed ethnicity cohort in large reference panel. C. Chatzinakos.

1389W    An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. S. Chen.

1390T    Systems biology approach to evaluate genetic factors of antidepressant treatment outcome in major depressive disorder. A.C. Hauschild.

1391F    DVINDEL: Towards an accurate de novo indels caller. A. Lian.

1392W    Identifying biomarkers to build a predictive model for PTSD using machine learning approaches. S. Woo.

1393T    Meta-analysis of Janssen DiseaseLand omics database for disease signatures and treatments. C. Wu.

1394F    Association of addiction and psychiatric phenotypes to predicted transcript levels. D.M. Bost.

1395W    Psychiatric disorders related gene co-expression modules in brain development. Y. Dai.

1396T    A simple bioinformatics tool to facilitate implementation of pharmacogenomics in the clinical practice of psychiatry. A. Baskys.

1397F    ANCO genes: Annotations and comprehensive analysis of candidate genes for alcohol, nicotine, cocaine, and opiate (ANCO) dependence. R. Hu.

1398W    Clinical impact of cryptic splice mutations. J. McRae.

1399T    Dissecting heterogeneity of neurodevelopmental disorders using seed centric genetic modules. J.C. Chow.

1400F    Predicting the clinical impact of human mutation with deep learning. L. Sundaram.

1401W    Identification of mitochondrial disease variants on whole exome sequencing data. P. Garret.

1402T    Mitochondrial variant calling in over 15,000 individuals in the genome aggregation database (gnomAD). K.M. Laricchia.

1403F    Mitochondrial variant detection, annotation and segregation from whole-exome sequencing data. J.C. Tsai.

1404W    Methods for detecting the role of ncRNAs in rare mitochondrial diseases. V.A. Yepez.

1405T    Condition-dependent allele-specific expression in normal and diseased donor eyes reveals potential therapeutic targets for intermediate AMD. Q. Li.

1406F    Toward clinical-grade in silico prediction: A disease-specific machine learning model derived from manually curated dataset peaks accuracy of nonsynonymous variant impact prediction in hearing loss genes. X. Li.

1407W    A geometric morphometrics and machine learning tool for facial shape analysis and classification based on non-invasive facial biomarkers: A Down’s syndrome case study. X. Sevillano.

1408T    nanotatoR: An annotation tool for next generation mapping. S. Bhattacharya.

1409F    Calling trisomic variants from whole genome sequencing data using PEMapper and PECaller. H.R. Johnston.

1410W    Phenotype enrichment and analysis of hundreds of EHR derived phenotypes in > 4,000 genetically reconstructed pedigrees from a large precision medicine cohort of 92,000 individuals. J. Staples.

1411T    Scaling rare disease genomics to tens of thousands of samples. B. Weisburd.

1412F    Construction of a structural variant detection pipeline for the Undiagnosed Diseases Program. B. Hospelhorn.

1413W    Precision etiology for complex disease classification. L.M. Schriml.

1414T    The use of AI technologies in genomic interpretation, a pilot study. R. Attali.

1415F    A novel machine learning algorithm for variant prioritization using genotype, phenotype and tissue-specific expression data. L. Lange.

1416W    A statistically-based, heuristic for allele-specific, position-based error modeling of Illumina next-generation sequencing data for rare mosaic variant calling in unmatched samples. J.N. Dudley.

1417T    Short tandem repeat expansions in undiagnosed rare genetic disease cases. P.A. Richmond.

1418F    Vegetarian diet-modulated epigenetic clock and longevity. X. Chen.

1419W    Machine learning delivers enhanced genomic prediction of osteoporotic fracture risk. J. Keller-Baruch.

1420T    Exonic variants in aging-related genes are predictive of biological aging status. M.E. Breitbach.

1421F    Predicting splicing from primary sequence with deep learning. K. Jaganathan.

1422W    Bioinformatic analysis of TE-fusion internal exons and nonsense-mediated mRNA decay within human genome. KH. Park.

1423T    Conditional generating adversarial networks for synthetic MRI brain images, semantic segmentation and annotation. Q. Ge.

1424F    Challenges in calling CNVs from low read-depth genome sequencing data for products of conception. J.W. Ahn.

1425W    Rapid and reproducible data processing with CWL, Toil and the Sentieon Tools. R. Aldana.

1426T    Findings from the Critical Assessment of Genome Interpretation, a community experiment to evaluate phenotype prediction. G. Andreoletti.

1427F    Not by systems alone: Identifying functional outliers in rare disease pedigrees. S. Ballouz.

1428W    Timely detection and bioinformatic mitigation of rapid whole genome sequencing genome-wide biases in a clinical lab setting. S. Batalov.

1429T    Re-computing NGS read depth statistics to standardize coverage metrics when using disparate variant call outputs for clinical genomics applications. A. Bhattacharya.

1430F    The newborn screening translational research network: Advancing the understanding of genetic disease in newborns and children using a shared infrastructure of genomic and phenotypic information. A.M. Brower.

1431W    A bioinformatics framework for identification of mishandled samples in clinical NGS based tests. K. Cao.

1432T    HLA-Helper: HLA sequence conversion and association analysis toolkit. W. Choi.

1433F    Hi-Lite, generalized linear model based similarity measurement for Hi-C samples. C. Crowley.

1434W    Accessing and extracting informations from binary sequence alignment/map (bam file) in a non-unix environment with python 3.6+. J.G. Damasceno.

1435T    Storage and use of dbGaP data in the cloud. M.L. Feolo.

1436F    High accuracy somatic variant detection with TNscope. D.N. Freed.

1437W    Phenotype-based variant triaging for use in clinical whole genome sequencing (cWGS). V.G. Gainullin.

1438T    Comparison of phenotype-driven variant prioritization tools for diagnostic exome sequencing. Y. Guo.

1439F    Are we close to constructing a fully diploid view of the human genome? B.T. Hannigan.

1440W    Tissue transcriptomics: Potential for postmortem interval predictions. N. Herrick.

1441T    A model based association test considering multiple causal variants. J.J. Joo.

1442F    Med2RDF: A semantic knowledge base for genomic medicine. T. Katayama.

1443W    Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data. T. Kishikawa.

1444T    Mendelian inheritance errors in whole genome sequenced trios are enriched in repeats and cluster within copy number losses. P. Kothiyal.

1445F    INTERSPIA: A web application for exploring the dynamics of protein-protein interactions among multiple species. D. Kwon.

1446W    SAMPLOT: Rapid structural variant visualization for short, long, linked, and phased reads. R.M. Layer.

1447T    Hybrid scaffolding of optical maps provides high contiguity and corrects errors in sequence assemblies. J. Lee.

1448F    QC software for analysis of sequence data in family-based studies. Q. Li.

1449W    MedGen: A powerful tool for clinical genetics. A.J. Malheiro.

1450T    Improving next-generation sequencing determination of antigens in the MNS blood group system through the use of a graph-based reference assembly. S. McGee.

1451F    Scientific benefits resulting from standardizing electronic health records to facilitate multi-site collaboration

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1452W    Astrolabe: Automated pharmacogenetic allele calling of CYP2D6, CYP2C9 and CYP2C19 from NGS data. N. Miller.

1453T    Fast model-based detection of identity-by-descent. J. Nait Saada.

1454F    The road to atomistic pathology. M-.S Park.

1455W    Interrogation of biases from different platforms and different types of library preparations in transcriptome sequencing study. G. Park.

1456T    Integrated Bayesian analysis outperforms existing methods for variant classification. D. Qian.

1457F    Statistical considerations for the analysis of massively parallel reporter assays data. D. Qiao.

1458W    Whole genome sequencing data analysis based on GRCh38 and difficulty on haplotyping for pharmacogenes. N. Qu.

1459T    STAASIS: A web based server for identifying Illumina genotype arrays and initial strand orientation. N.W. Rayner.

1460F    Machine learning approaches for comparative genome structure analysis. C. Rojas.

1461W    OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants. P.N. Schofield.

1462T    Automated disease-specific variant classification for rare autosomal recessive disorders. M.C. Schu.

1463F    BayesDel and REVEL outperform other in silico meta-predictors for variant classification. Y. Tian.

1464W    Quality control for 141,456 human exomes and genomes in the Genome Aggregation Database: An open-source, high-throughput computational workflow. G. Tiao.

1465T    Descriptive analysis of identification and characterization in-silico of genomic susceptibility focus associated with rare diseases, a bioinformatic approach. F. Tobar-Tosse.

1466F    Bioinformatic software pipelines strategies for analysis of amplicon-based assays for clinical applications. F. Vezzi.

1467W    A suite of automated sequence analyses reveals a difference in the genetic burden of probands versus unaffected siblings. A. Wu.

1468T    Enhanced knowledge generation of rate-changes in transcriptional regulation using ontology rules, sentence structure and deep neural networks. Y. Zhang.

1469F    MUNIn (Multiple tissue UNifying long-range chromatin Interaction detector): A statistical framework for identifying long-range chromatin interactions from multiple tissues. Y. Yang.

1470W    ChIAPoP: An integrated tool for ChIA-PET data analysis. W. Huang.

1471T    The NIH Genetic Testing Registry (GTR): A 2018 genetic test submission trends report. M.A. Hoeppner.

1472F    Variant Ranking Toolkit (VaRTK): An ensemble approach for rapid variant interpretation in clinical diagnosis. M. Manoharan.

1473W    The genesis of good visualizations - AVADIS Platform. H.K. Adil.

1474T    Deep linear mixed models for structured, high-dimensional trait GWAS. F.P. Casale.

1475F    A fast hierarchical model that leverages multi-mapping reads for the quantitation of gene expression from droplet single-cell RNA sequencing data. K. Choi.

1476W    RUFUS: Reference free variant detection improves accuracy and sensitivity. A. Farrell.

1477T    Preparing short read sequencing data for variant filtration and calling with deep learning. S. Friedman.

1478F    Medical ontologies for precision medicine and translational research. M.A. Haendel.

1479W    Updating an efficient pipeline for local ancestry inference. E.M. Jewett.

1480T    Exploring the consistency of the quality scores with machine learning for next-generation sequencing experiments. M. Oh.

1481F    Exploring disease-associated regions across genes and gene families at mbv.broadinstitute.org. E. Pérez-Palma.

1482W    AVX2 based hardware acceleration in StrandNGS. A. Pal.

1483T    Predicting pathogenicity of missense variants using deep learning. Y. Shen.

1484F    MOPower: An R-Shiny application for the simulation and power calculation of multi-omics studies. H. Syed.

1485W    CNV analysis of whole exome sequencing data in a clinical diagnostic setting. D. Becker.

1486T    LinkedSV: Detection of mosaic structural variants from linked-read sequencing. L. Fang.

1487F    Development of structural variation calling in clinical whole genome sequencing: A progress report. A.M. Gross.

1488W    Cobalt: Improved detection of germline copy number variants from hybrid-capture NGS data. B.D. O'Fallon.

1489T    GATK-SV: Integrating Structural Variation calling in GATK. V. Ruano-Rubio.

1490F    CCGT: A database for sharing Chinese children’s genetic testing results. X. Dong.

1491W    Variant allele frequency discrepancies in population databases. E. Kaseniit.

1492T    Increasing phenotypic and functional evidence in ClinVar. M.J. Landrum.

1493F    MGeND: A new Integrated database of clinical and genomic information. M. Nakatsui.

1494W    Open access 2030: Economics of data sharing in the genomic age. N. Stockham.

1495T    Characterizing individuals with pathogenic variants: An application of the phenotype risk score method. L. Bastarache.

1496F    Leveraging electronic health records to map the genetic and phenotypic complexity of preterm birth. A. Abraham.

1497W    Data fingerprints: Fast and simple comparison of semi-structured data, with emphasis on electronic health records. G. Glusman.

1498T    Evaluating the potential of screening exome sequencing for newborn screening. A.N. Adhikari.

1499F    ExomeLoupe: A secure genetic variant viewer tool. C. Egas.

1500W    Time-course expression QTL-atlas of 301 pregnant Japanese women in Maternity Log Study. M. Nagasaki.

1501T    Pipeline for trio analysis in StrandNGS. A. Choudhury.

1502F    AIvar: An artificial intelligent variant classifier for clinical interpretation of genetic variants and prioritization of variants of unknown significance (VUS). J. Luo.

1503W    A fast and interpretable new approach to fine mapping of genetic associations. G. Wang.

1504T    Evaluation of variant scoring methods in non-coding region in the context of complex traits/diseases. G. Zheng.

1505F    How well can we create phased, diploid, human genomes? An assessment of FALCON-Unzip phasing using a human trio. A. Fungtammasan.

1506W    Improved dog reference assembly enables paralog-specific identification of tandem repeats in assembled gaps using QuicK-mer. F. Shen.

1507T    Caring without sharing: Genome-wide association and mapping on cohorts fragmented across institutional silos. A. Pourshafeie.

1508F    Analyzing phenotype imputation effectiveness on summary statistics from the UK Biobank. J. Rotman.

1509W    Short tandem repeat (STR) profile of pentanucleotide repeats and high-resolution STR typing solution for the Japanese population. M. Saito.

1510T    The Encyclopedia of DNA elements (ENCODE): 2018 data portal update. E.T. Chan.

1511F    GFAKluge: A toolbox for manipulating the graphical fragment assembly format. E.T. Dawson.

1512W    Towards reproducible, transparent, and systematic benchmarking of omics computational tools. S. Mangul.

1513T    Leveraging patterns of purifying selection to identify clinically important non-coding sequence in human whole-genome sequence data. D. Vitsios.

1514F    ncER (non-coding Essential Regulation) score – prioritization of variants for clinical diagnosis in the non-coding genome. J. di Iulio.

1515W    Application of a machine learning framework to prioritise genes from large-scale cohort analyses. S. Petrovski.

1516T    Integrated DNase I hypersensitivity information to supervise cell type correction in DNA methylation analysis. X. Fu.

1517F    MuPhenome: A curated catalog of microbiome correlates with clinical phenotypes. S.K. Belman.

1518W    Testing hypotheses about the microbiome using an ordination-based linear decomposition model. Y. Hu.

1519T    Meta-analysis of vaginal microbiome data provides new insights into preterm birth. I. Kosti.

1520F    Identification of microRNA target sites: In-silico screening on NGS data. V. Rallo.

1521W    The IMPC: Insights into the correlation of gene essentiality and human disease. P. Cacheiro.

1522T    Statistical methods inferring fetal fractions promise the most powerful noninvasive prenatal screen. M. Dang.

1523F    The pharmacogene variant (PharmVar) consortium and database. A. Gaedigk.

1524W    Large-scale characterization of CYP2D6 variation in African Americans using TOPMed whole genome sequencing data. S. Lee.

1525T    High-throughput CLIA QC pipeline for PGx EHR integration. M. Saylor.

1526F    PubCaseFinder: A phenotype-driven differential diagnosis system for rare diseases based on case reports. T. Fujiwara.

1527W    Genetic history of Russian indigenous populations and their genome medical mining. V. Brukhin.

1528T    GRAF-pop: A novel tool to quickly infer subject ancestry from multiple genotype datasets. Y. Jin.

1529F    Uncertainty in genetic ancestry: The importance of structure in the ancestral populations. F.L. Mendez.

1530W    A framework for analytical validation of SNP arrays for clinical diagnostics. P.F. Cherukuri.

1531T    Comparison of clinical interpretation of genetic variation in the eMERGEseq cohort using multiple methods. D.R. Crosslin.

1532F    Automating variant assessment using structural features. A.C. Chamberlin.

1533W    Leveraging external variant frequency information to increase statistical power in rare variant association studies. J. Chen.

1534T    Benchmarking and visualization of short tandem repeats to enable genome-wide discovery and clinical interpretation. V.B. Deshpande.

1535F    Transcriptome analysis by RNA-sequencing as an adjunct to whole genome analysis in undiagnosed genetic disease. N. Balanda.

1536W    QTR-seq: A tool for detecting quantitative trait-associated genes in RNA-seq data. M. Seo.

1537T    Identification of transcriptional effects from loss of the Y chromosome (LOY) in leukocytes using single cell sequencing. J. Halvardson.

1538F    Statistical modeling and differential gene expression analysis based on single cell RNA-seq data. I. Mukhopadhyay.

1539W    Integrative differential expression and gene set enrichment analysis in single cell RNAseq studies. S. Sun.

1540T    Genetic regulation across 1,500 human induced pluripotent stem cell lines. C. Smail.

1541F    Machine learning and network topological approaches to predict the pathogenicity of loss of function mutations. D.J. Rhodes.

1542W    Genome-wide discovery of large repeat expansions in whole-genome sequence data. M.A. Eberle.

1543T    Variant calling from RNA-seq data for Mendelian disorders needs both reference genome and reference transcriptome. A. Jazayeri.

1544F    Sensitive detection of low-allele fraction structural variants in clinical cancer samples. E. Lam.

1545W    Creating a graph-based Arab reference genome using whole read overlap assembly for accurate SV genotyping. Y. Mokrab.

1546T    A reference haplotype panel for genome-wide imputation of short tandem repeat variants. S. Saini.

1547F    Real-time genomic analysis with IOBIO tools. A. Ward.

1548W    Robust detection of differential splicing and transcription events for RNA-seq data. J. Hu.

1549T    Mutation maps as a tool for understanding deep learning models in biology: Branchpoint prediction as an example. R. Srinivasan.

1550F    Integrating predicted transcriptome from multiple tissues improves association detection. A.N. Barbeira.

1551W    Detecting structural variants from Oxford Nanopore sequencing using signal-level data. D. Beyter.

1552T    CtsCNV: A copy number variant detection method for clinical targeted sequencing data. Y. Cai.

1553F    Learning and interpreting gene regulatory architectures in a deep neural network framework. L. Chen.

1554W    A high-quality benchmark dataset of SV calls from multiple technologies. S. Chen.

1555T    Binomial probabilistic principal component analysis for genotype data. A.M. Chiu.

1556F    Benchmarking of StrandNGS expression profiling pipeline. D. Chohan.

1557W    CookHLA: Accurate HLA imputation. S. Cook.

1558T    A balancing act: Aiming for stability in human gene nomenclature. P. Denny.

1559F    Prototyping computational tools for human genetics research in NCBI hackathons. A. Dillman.

1560W    Prediction of regulatory SNPs affecting transcription factor binding using RegulomeDB. S. Dong.

1561T    Efficient curation and real-time querying of clinical and genomic data for 500,000 samples. H. Edgren.

1562F    MegaQC: Continuous monitoring of bioinformatics metrics. P.A. Ewels.

1563W    Updating and expanding the resources from the 1000 Genomes Project in the International Genome Sample Resource (IGSR). S. Fairley.

1564T    Detection of structural variants using linked-reads with novel algorithms. I.T. Fiddes.

1565F    Whole exome sequencing for exon-level copy-number variation in small-sample clinical settings. D.L. Filer.

1566W    Benchmarker: An unbiased, genetic-data-driven benchmarking strategy for gene and variant prioritization algorithms using LD score regression. R.S. Fine.

1567T    Association testing and estimation of variant effects in multiple traits. L. Gai.

1568F    A straightforward method to improve variant calling sensitivity for a MSH2 splicing mutation (c.942+3A>T) using GATK tools. A. Gerasimova.

1569W    Multi-omics integration of metagenomic and DNA methylation data using sparse canonical correlation analysis. J. Greenbaum.

1570T    Proteome PheWAS browser: Graph-based interactive platform allowing visualisation of thousands of estimates from Mendelian randomization analyses. V. Haberland.

1571F    Enhanced clinical copy number variant calling with sample-specific sensitivity. S. Hong.

1572W    Cox regression outperforms logistic regression for detecting genotype-phenotype associations in genetic data linked to electronic health records. J.J. Hughey.

1573T    An accurate CNV model for clinical exome sequencing. S. Kapil.

1574F    A computational framework for real time analysis and sharing of large next generation sequencing population datasets. H. Karten.

1575W    Genomic multilateration. K. Kim.

1576T    FALCON-Phase integrates PacBio and HiC data for de novo assembly, scaffolding and phasing of a diploid Puerto Rican genome (HG00733). S.B. Kingan.

1577F    Utilizing IGV.js to visualize genomic variation from trio clinical whole genome sequencing. BR. Lajoie.

1578W    A-Lister: A tool to identify the most important ‘-omics’ entities across multiple sample groups. S. Listopad.

1579T    A preliminary assessment of long-read structural variant calling software. J. LoTempio.

1580F    Comparison of indel callers and metrics to evaluate performance of new tools. S. Marwaha.

1581W    Create a reproducible paper with FireCloud. T. Miller.

1582T    Unifying copy number variant calling and imputation from SNP arrays. T. Mimori.

1583F    Locus Reference Genomic (LRG): A resource for reporting clinically relevant sequence variants. J. Morales.

1584W    Systematic meta-analysis of structural variation and CNV algorithms calling performance using short read sequencing. J.A. Morales-Rosado.

1585T    Prioritizing SNPs for functional experiments using available annotations as a feature selection problem. A. Mousas.

1586F    Pedigree-based analysis pipeline (PBAP) v.2: An upgraded version with additional capabilities. A.Q. Nato.

1587W    A novel deep-learning approach to predict phenotype from genotype and its applications to Japanese direct-to-consumer genetic testing. S. Nogawa.

1588T    Unifying primary, secondary, and tertiary genomic analytics in a scalable analytics platform. F.A. Nothaft.

1589F    Shellflow: Shell-script like scientific workflow management system. Y. Okamura.

1590W    Kibio.science: Unify and visualize life sciences massive data . R. Ongaro-Carcy.

1591T    Exploring bias in ATAC-seq experiments with ataqv, an interactive quality control tool for ATAC-seq data. P. Orchard.

1592F    Data visualization feature of Analyst Portal-A distributed real-time data query system. H. Qiu.

1593W    GARFIELD-NGS: Genomic variants filtering by deep learning models in NGS. V. Ravasio.

1594T    Development of a clinical summary tool that reduces clinical note review time and standardizes phenotype terminology. J.S. Salvo.

1595F    New features facilitating search and analysis of models of human disease at Mouse Genome Informatics and The Alliance of Genome Resources. C.L. Smith.

1596W    Reproducible workflows for genomics data analyses. W. Souza.

1597T    ReQTL: An allele-level measure of variation-expression genomic relationships. L.F. Spurr.

1598F    The ENCODE pipeline architecture: Reproducible and portable analysis tools for ChIP-seq, RNA-seq, DNase-seq, ATAC-seq, HiC, ChIA-PET, and whole-genome bisulfite experiments. J.S. Strattan.

1599W    Wikidata for biomedical knowledge integration and curation. G.S. Stupp.

1600T    Dissecting components of genetic associations across 2,138 phenotypes in the UK Biobank. Y. Tanigawa.

1601F    OptimiR: An alignment workflow that integrates genetic variations in miRNA sequencing data. F. Thibord.

1602W    TogoVar: A comprehensive Japanese genetic variation database including 183,884 SNP-array and 125 whole exome sequence based data. L. Toyo-oka.

1603T    ViVa (VIsualization of VAriants):VCF (Variant Call Format) file visualization tool. A. Uzun.

1604F    Bayesian hierarchical modeling of clustered or longitudinal RNA sequencing experiments. B.E. Vestal.

1605W    Structural variation detection and validation pipelines for whole genome sequencing association studies and diagnostic testing. H.Z. Wang.

1606T    SeQuiLa: An elastic, fast and scalable SQL-oriented platform for processing and analyzing genomic data. M. Wiewiórka.

1607F    A high-throughput computational quality control pipeline for exome and genome data for rare disease studies. M. Wilson.

1608W    Determining sanger confirmation necessity of NGS variants using a data-driven model. C. Wu.

1609T    Performance evaluation of assembly-based structural variation discovery in the human genome. C. Xiao.

1610F    CRISPRO identifies functional protein coding sequences based on genome editing dense mutagenesis. Q. Yao.

1611W    Cell type clustering tools evaluated in six single cell chromatin accessibility experiments. E. Urrutia.

1612T    Differences in GWAS findings driven by using ethnically-matched and mixed imputation reference panels. M. Kals.

1613F    Clinotator: Analyzing ClinVar variation reports to prioritize reclassification efforts. R.R. Butler.

1614W    Prediction of missense variant function polarity using machine learning. A. Ghosh.

1615T    DeepSweep: A novel neural model to localize signals of positive selection. S.J. Gosai.

1616F    The Monarch HIPPO: Deriving insight from the medical literature by fuzzy semantic searches over diseases and phenotypes. T. Groza.

1617W    ForestQC: Variant quality control based on random forest model. J. Li.

1618T    DECA: Scalable XHMM exome copy-number variant calling with ADAM and Apache Spark. M. Linderman.

1619F    metro and hudson: R packages to leverage the utility of Manhattan plots. A. Lucas.

1620W    A bioinformatics pipeline for next-generation sequencing of the killer cell immunoglobulin-like receptor gene complex. W.M. Marin.

1621T    Accurate fetal DNA variant calling in the presence of maternal cell contamination. E. Nabieva.

1622F    Confounding variable analysis of transcriptomics sequencing samples. M. Nagarajan.

1623W    Prediction of pathogenic non-coding variants associated to monogenic Mendelian diseases through an integrative supervised learning approach mining signals of recent and ongoing purifying selection in human. A. Rausell.

1624T    Scripting support in StrandNGS. M.W. Saifi.

1625F    Comparison of African genome resource and 1000-Genomes imputation. M. Schmidt.

1626W    Quantifying the unknown unknowns in molecular genetic assays. D. Siegel.

1627T    A fast and accurate open-source variant caller. M.A. Simpson.

1628F    Sharing aggregate genomic data on the web: re-engineering and extending the gnomAD browser. M. Solomonson.

1629W    Systematic discovery of conservation states for single-nucleotide annotation of the human genome and variant interpretation. A. Sperlea.

1630T    Quality assessment and comparison of exome data from neonatal dried blood spot DNA with whole blood data. U. Sunderam.

1631F    Construction and benchmarking of a multi-ethnic reference panel for the imputation of the HLA. M. Wendorff.

1632W    Introducing Aneris: A hadoop cluster for bioinformatics at scale. N.R. Wheeler.

1633T    A computational approach to detect site specific change in read patterns from high resolution sequencing assays. N. Yamada.

1634F    KMgene: A unified R package for gene-based association analysis for complex traits. Q. Yan.

1635W    Homozygosity mapping provides evidence of pathogenicity in recessive Mendelian disease. M.N. Wakeling.

1636T    Limit of detection study of targeted sequencing for germline copy number variation. Q. Cai.

1637F    Exome CNV calling improves diagnostic yield in rare disease families. K.R. Chao.

1638W    A public benchmarking resource of 194,731 CNV calls generated from a combination of short reads, linked long reads and true long read technologies. X. Chen.

1639T    Genome-wide structural variant identification from PromethION long read sequencing data. W. De Coster.

1640F    Comprehensive benchmarking of structural variant callers. R. Littman.

1641W    FusorSV: An algorithm for optimally combining data from multiple structural variation detection methods. A. Malhotra.

1642T    SV-INFERNO: A Spark based pipeline for INFERring the molecular mechanisms of NOncoding structural variants. E.E. Mlynarski.

1643F    A novel approach for structural variant calling: Combining data from whole genome next-generation sequencing and optical mapping. Y. Porat.

1644W    Precise common and rare germline CNV calling with GATK. A.N. Smirnov.

1645T    A deep learning method to increase the accuracy of copy number variation detection from whole-genome sequencing data. B. Trost.

1646F    DeepCNV: A deep learning approach for detecting copy number variants. Z. Wei.

1647W    Evaluation of the performance of copy number variation prediction tools for the detection of deletions from whole genome sequencing data. W. Whitford.

1648T    How well can you detect structural variants: Towards a standard framework to benchmark human structural variation. J.M. Zook.

1649F    Polaris: Extensive resources from multiple technologies for next generation sequencing analysis. M.A. Bekritsky.

1650W    Curating clinically relevant variants at scale: ClinGen’s Variant Curation Interface and opportunities for data mining the clinical genome. S. Dwight.

1651T    Resources for archiving, sharing and analysis of controlled-access human data at DDBJ Center. Y. Kodama.

1652F    Data integration techniques to elucidate connections between environmental factors, genetic variants, and human diseases. M.B. Kosnik.

1653W    NCBI services for variation normalization, remapping, and annotation. L. Phan.

1654T    MyVariant.info: Community-aggregated variant annotations as a service. J. Xin.

1655F    Genetic variation influences ground state pluripotency in mouse embryonic stem cells through a hierarchy of molecular phenotypes. D.A. Skelly.

1656W    Identification of novel epigenetically regulated genes and pathways involved in high myopia. C. Uppala.

1657T    NGS studies on non-model organisms using StrandNGS. V. Chakraborty.

1658F    Optimal correction for hidden covariates improves eQTL-based characterization of disease risk variants. M.J. Gloudemans.

1659W    An ultra-fast approach to identify eQTLs with many tissues leveraging a linear time mixed-model algorithm. B. Jew.

1660T    The eQTLs catalog and LinDA browser: A platform for determining the effects on transcription of GWAS variants. S. Onano.

1661F    Design and analysis of FACS-based CRISPR screens. C.G. de Boer.

1662W    Bioinformatics approaches for quantifying endogenous and transgene mRNA expression by RNA sequencing in gene therapy studies. E.K. Tsang.

1663T    Miscall estimation for pathogenic variants in genomic direct-to-consumer microarray data. G. Lennon.

1664F    MiniScrub: De novo long read scrubbing using approximate alignment and deep learning. N. LaPierre.

1665W    A massive collection of Japanese full-length class-I HLA sequences enhanced the accuracy of HLA genotyping from WGS data. Y. Wang.

1666T    Linkage-disequilibrium regularized support vector machines for genome-wide association studies. M. Sudarshan.

1667F    Fine mapping chromatin contacts in capture Hi-C data. C. Eijsbouts.

1668W    Pathoscore: A tool for unbiased evaluation of variant pathogenicity metrics. J.M. Havrilla.

1669T    IGV-Web: An application for viewing and sharing genomic datasets. J.T. Robinson.

1670F    What’s new with NCBI tools for genome visualization and analysis. V.A. Schneider.

1671W    Using heterogeneous networks to systematically record, model and query GWAS follow-up experiments. J. Barrett.

1672T    GlobAl Distribution of GEnetic Traits (GADGET): Exploring polygenic trait scores. A.T. Chande.

1673F    An exploration of the clinical phenome and the application of natural language processing for rapid and deep phenotyping of acutely ill children with genetic diseases. M.M. Clark.

1674W    Utilizing spike-and-slab Lasso models for epistasis analysis. J. Wen.

1675T    Predicting genetic communities using frequently shared identity by decent segments. L. Doroud.

1676F    A Hadoop data lake enables genocentric mining of genetic variation associated with Mendelian disease. A.W. Hansen.

1677W    ClinGen’s Gene Curation Interface (GCI) facilitates gold-standard consistent evaluation of the clinical relevance of genes. M.W. Wright.

1678T    Xrare: A machine learning method jointly modeling phenotypes and ACMG guidelines improves rare disorder diagnosis. X. Ma.

1679F    CLUMPAK 2.0: Improved alignment of replicate cluster analyses. N.M. Kopelman.

1680W    A novel non-linear dimension reduction approach to infer population structure for low-coverage sequencing data. J. Zhou.

1681T    A data broker tool to coordinate availability queries and meta-analysis in a secure, compliant environment. E. Sukharevsky.

1682F    Undiagnosed Diseases Program Database (UDPdb) of genomic data: Development and utility. D.L. Ross.

1683W    Seekmer: A fast and accurate tool for quantitative transcriptomic analysis at low sequencing depth. H. Zhang.

1684T    Quality control of highly structured RNA-seq data from the Multimuther Study. M.W. Stevens.

1685F    Deep learning in accurate cell type classification and robust surface protein abundance prediction for droplet-based single cell transcriptomic data. H. Xin.

1686W    Identification and prediction of cell cycle signatures in induced pluripotent stem cells using single-cell gene expression data. C.J. Hsiao.

1687T    Imputation of single-cell gene expression with an autoencoder neural network. R. Li.

1688F    BAMM-SC: A Bayesian mixture model for clustering droplet-based single cell transcriptomic data from population studies. Z. Sun.

1689W    A generative model for manifold learning for single cell RNA sequencing experiments. A. Verma.

1690T    Greatly reducing the noise of single-cell RNA sequencing with transfer learning. J. Wang.

1691F    1,000x faster than PLINK: Genome-wide epistasis detection with logistic regression using combined FPGA and GPU accelerators. D. Ellinghaus.

1692W    Improving NCBI’s dbSNPdata quality and annotation for variant interpretation. M.T. Ward.

1693T    Integrate genome, phenome and transcriptome data to detect novel disease-gene association using GWAS summary data. B. Wu.

1694F    Amplimap: An open-source analysis pipeline for targeted high-throughput sequencing data. N. Koelling.

1695W    A workflow to improve variant calling accuracy in molecular barcoded sequencing reads. M. Ta.

1696T    DeFine: Deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants. M. Wang.

1697F    To bind or not to bind: A deep learning approach for explaining TF-DNA recognition. A. Zheng.

1698W    Consistent variant annotation using the Clinical Annotation Reference Templates (CART). S. Yost.

1699T    ERVcaller: Identifying and genotyping non-reference unfixed endogenous retroviruses (ERVs) and other transposable elements (TEs) using next-generation sequencing data. X. Chen.

1700F    reGenotypeTE: A tool to improve genotype prediction for mobile element insertions. J. Thomas.

1701W    Refining the ability to detect human-specific LINE-1 insertions using long-read sequencing technology. W. Zhou.

1702T    Manta: Improving the accuracy of structural variant calling. X. Chen.

1703F    Highly-accurate detection of SNVs from long read sequencing with high error rates. P. Edge.

1704W    Comprehensive characterization across the spectrum of tandem repeat variants. H. Kang.

1705T    A comparative evaluation of accelerated variant calling pipelines for human germline whole-genome sequencing data. S. Maciuca.

1706F    Joint calling and PacBio SMRT Sequencing for indel and structural variant detection in populations. A.M. Wenger.

1707W    Pluto: Ultra-fast haplotype phasing and genotype refinement tool for ultra-low coverage DNA sequence reads. F. Zhang.


Omics Technologies

 

1708T    Profound perturbation of the human metabolome by obesity. E.T. Cirulli.

1709F    Single-nucleus RNA-sequencing of human subcutaneous adipose tissue reveals a heterogeneous population of 12 cell types. M. Alvarez.

1710W    Metabolite Quantitative Trait Loci (mQTLs) provide insights into genetically driven pathobiology in asthma. R.S. Kelly.

1711T    Gut microbiota composition, DNA methylome and susceptibility of developing allergic diseases in children living in rural and urban. Z. Yang.

1712F    Transcriptomics and metabolomics show the ORMDL3 asthma gene regulates pleiotropic effects on epithelial inflammation. Y. Zhang.

1713W    Pan-Immunome Project: Building an integrated T cell receptor repertoire profile for immune-related diseases. X. Liu.

1714T    Fine-mapping autoimmune disease variants in cytokine induced cell states. B. Soskic.

1715F    Development and validation of next-generation sequencing assay for carrier screening of alpha-thalassemia. C. Ye.

1716W    Functional dissection of common genetic variation in the autoimmune-associated TNFAIP3 locus. J.P. Ray.

1717T    Predicting and characterizing kidney transplant rejection risk by B cell immune repertoire sequencing. S. Pineda.

1718F    Genetic and environmental factors associated with the diversity and biases of immune system. W. Zhang.

1719W    Single-cell RNA-sequencing of a patient with a mosaic RUNX3 deletion reveals an aberrant T-cell repertoire in peripheral blood mononuclear cells. J.H. Tsai.

1720T    Droplet assisted RNA targeting by single cell sequencing (DART-seq) enables simultaneous multiplexed amplicon sequencing and transcriptome profiling in single cells. M.F.Z. Wang.

1721F    Deciphering the cellular and molecular heterogeneity of the human lung airway epithelium in smokers and non-smokers with single cell transcriptomics. M.A. Seibold.

1722W    Translational evaluation of a genome-wide CRISPR/Cas9 screen of acetaminophen-induced hepatocyte toxicity reveals mechanistic insights and drugable candidate genes. K. Shortt.

1723T    Transcriptome meta-analysis reveals dysregulated molecular signatures in cystic fibrosis patients with normal lung function. J.E. Ideozu.

1724F    Investigation of gut microbiome in ulcerative colitis and Crohn’s disease patients. N. V. Ivanov.

1725W    Characterizing podocyte cell cultures and genetic markers of podocyte maturity. T.W. Soare.

1726T    Extracting expression-modulating genetic variants from Hidradenitis Suppurativa clinical trials using massively parallel reporter assays. M. Liu.

1727F    Somatic mutations in focal cortical dysplasia. V.S. Almeida.

1728W    Cell type-specific responses in motor neuron disease: Analysis of the cell type-specific effects of C9orf72 repeat expansion in the motor cortex of mouse models of fALS at single cell resolution. L.A. Goff.

1729T    Generation and characterization of a conditional mouse model that uses SUMO1 to direct the BirA-mediated tagging of cell-type-specific nuclei in vivo. M. Hudson.

1730F    High efficiency neurological panel design using Twist Bioscience double-stranded custom targeted enrichment probes and capture optimization for aged dry blood spot samples. . R. Pellegrino.

1731W    Clinical and genetic implications for long-read sequencing after testing the ONT MinION and PacBio Sequel across the C9orf72 ‘GGGGCC’ repeat expansion in human carriers. J. Fryer.

1732T    Humanized STXBP1 animal model for detecting pathogenicity in clinical variants. C. Hopkins.

1733F    10x Genomics Chromium linked-reads for genotyping short tandem repeats in whole-genome sequence data. I. Rajan-Babu.

1734W    Whole genome sequencing of amyotrophic lateral sclerosis discordant monozygotic twins identifies thousands of false positive somatic mutations. K.L. Williams.

1735T    Using Agilent SureSelectXT Human Methyl-Seq to further study gene regulation through methylation modifications. C. Vaccaro.

1736F    Exome analyses in subfamily trios from large family tree in the South-Eastern Moravia (Czech Republic) population with high incidence of parkinsonism. R. Vodicka.

1737W    Single-cell RNA-sequencing identifies multiple human microglial subtypes associated with neurodegenerative disease. V. Menon.

1738T    Single-cell RNA-sequencing in facioscapulohumeral muscular dystrophy disease etiology and development. A. van den Heuvel.

1739F    Amplification-free targeted SMRT sequencing using CRISPR/Cas9 for studying repeat expansions in Huntington’s disease. I. Höijer.

1740W    Investigating changes to the gut microbiome before and during symptom progression in the MeCP2-e1 mouse model of Rett syndrome. T.E. Grant.

1741T    An integrated deep mutational scanning approach to defining the PTEN genotype-phenotype map. T.L. Mighell.

1742F    A copy number variation map of pediatric neuropsychiatric traits. M. Zarrei.

1743W    Phased SLC6A4 promoter haplotype determination using long-read single molecule real-time (SMRT) sequencing. Y. Yang.

1744T    Cell-type specific differential gene expression in post-mortem snRNA-seq of the depressed brain. M. Maitra.

1745F    Neural stem cells from MAND patients reveal a significant role for MBD5 in neurodevelopment, circadian rhythm, Wnt and leptin signaling, and autism. S.V. Mullegama.

1746W    A splice-site mutation and overexpression of CCNT2 in autosomal recessive intellectual disability patients. K. InanlooRahatloo.

1747T    Single cell sequencing of iPSC neural cells from Down syndrome patients uncovers perturbed cell differentiation. J. Klar.

1748F    Scaling up genome engineering for modeling reciprocal genomic disorders. X. Nuttle.

1749W    Integrated functional characterization of a non-coding GPC3 allele in a family with recurrent cases of suspected Simpson-Golabi-Behmel syndrome. A. Vitobello.

1750T    A next-generation mapping approach for the assembly and detection of structural variation within genomic regions containing complex segmental duplications. F. Yilmaz.

1751F    Longitudinal aging-associated gene expression profiling in African green monkey (Chlorocebus aethiops). J. Huh.

1752W    Simons Foundation data through the GPF (Genotypes and Phenotypes in Families) system. I. Iossifov.

1753T    Platform for single-cell transcriptomics data analysis and management. S. Ramachandrula.

1754F    Omic-analysis to discovery genetic biomarker of severe forms of incontinentia pigmenti by using IPGB biobank samples. F. Fusco.

1755W    Cell-free DNA analysis by automated electrophoresis. M. Liu.

1756T    BGI employee multi-scale and mult-omics cohort and analysis. R. Li.

1757F    A rapid library prep with enzymatic shearing for an improved next generation sequencing workflow for WGS and target enrichment. J. Lenhart.

1758W    Towards precision medicine: Accelerating diagnostics for infectious and inflammatory diseases using blood gene expression biomarkers. M. Kaforou.

1759T    Development and validation of the CESeq and WESeq test systems. S. Burns.

1760F    Genome manipulation of induced pluripotent stem cells using CRISPR/Cas9. A.M. Resch.

1761W    Variant identification from whole genome sequencing at the UPMC Genome Center. A. Berndt.

1762T    Enhanced targeted resequencing by optimizing the enrichment technology and DNA insert length. M. Delledonne.

1763F    POP 1: A new sieving matrix for capillary electrophoresis that supports a wide range of applications with a single instrument set-up and with extended stability at ambient temperature. J. Romero.

1764W    The design of Taiwanese-specific SNP array by Taiwan Biobank. P.E. Wu.

1765T    Covaris and Twist fully validated NGS target enrichment library preparation with LE220-plus and oneTUBE. P. Kocjan.

1766F    NEBNext Ultra II FS DNA: A robust, enzyme-based DNA library preparation method. K. McKay.

1767W    Rapid isolation (<2 h) of ultra-high molecular weight genomic DNA from fresh/frozen human blood and cultured cells/frozen cell pellets without the use of agarose plugs. H. Sadowski.

1768T    Single-cell protein and gene expression profiling of stem memory T cells by Ab-seq. M. Nakamoto.

1769F    Deep mutational scanning of the β2-adrenergic receptor. E.M. Jones.

1770W    CleanPlex® UMI with unique dual index increases the overall usable reads available for ultralow-frequency variant calling. L. Lee.

1771T    Taiwan biobank surveys of gut microbiota. M. Su.

1772F    Evaluation of methods for the extraction of microbial DNA from vaginal swabs used for microbiome studies. S. Tomei.

1773W    Streamlining single-cell next-generation sequencing of small non-coding RNA. J.M. Henderson.

1774T    Returning unanticipated genomic results in a hospital-based research biobank. R.C. Green.

1775F    Genetic profiling of ADME markers using PharmacoScan™ solution across blood, saliva, and buccal cell-derived genomic DNA. D. Lizarraga.

1776W    Longitudinal individualized saliva omics profiling. G.I. Mias.

1777T    Combined mRNA and microRNA NGS library prep enables a more complete characterization of cell-free RNA. K.D. Allen.

1778F    Encapsulating single cells with barcoded beads on the Nadia Instrument. M. Breteau.

1779W    Analysis of single cell transcriptome from PBMCs using ddSeq with different sequencing conditions. H. Kim.

1780T    High-throughput single nuclei RNA-seq from limited amounts of frozen human and mouse tissues. A.M. Raman.

1781F    Single cell profiling of the developing mouse brain and spinal cord with split-pool barcoding. C. Roco.

1782W    Improving transcriptome profiling for single cell and low input RNA. J.C. Sanford.

1783T    Supporting single-cell RNA-seq at scale in the genomics platform at the Broad Institute. C. Walsh.

1784F    Discovery of phylogenetically informative Y-chromosomal variants in Argentine Amerindians Q haplogroup using next-generation sequencing data. P.B. Paz Sepúlveda.

1785W    Genomic characterization of fluorescently tagged human induced pluripotent stem cells. T.S. Grancharova.

1786T    Improved sequencing depth metrics for variant calling error rate. K. Dunaway.

1787F    Theoretical and practical considerations for validation of functional assays in clinical variant interpretation applications. S.E. Brnich.

1788W    Long-read single-molecule maps of the hydroxymethylome. Y. Ebestein.

1789T    A simple segue from Sanger to high-throughput SMRT Sequencing with an M13 barcoding system. C. Heiner.

1790F    SMRT Sequencing of clinically relevant targets using an amplification-free target enrichment approach. S. Ranade.

1791W    A new thermostable reverse transcriptase improves sensitivity, specificity and time to result for multiplex RT PCR-based detection and quantification of RNA. T.W. Schoenfeld.

1792T    Harmonized sequencing based genetic testing in the eMERGE III Network. D.M. Muzny.

1793F    Deciphering the methylome: Enzymatic Methyl-seq. L. Williams.

1794W    Systematic comparison between different library preparation kits and sequencing machines for high-throughput whole genome bisulfite sequencing. L. Zhou.

1795T    Comparison of whole exome capture products: Coverage & quality vs cost. B. Marosy.

1796F    A re-designed and unified workflow for exome and custom targeted panels developed to support a high throughput clinical research environment. E. Roth.

1797W    Beyond the exome report: Approaches to additional analysis for undiagnosed genetic disease. D.B. Zastrow.

1798T    Nextera Flex enrichment with automation provides a rapid and panel agnostic NGS workflow. J. Zhao.

1799F    Rapid and accurate quantification of Illumina NGS libraries using the Q real-time qPCR instrument. P. Bartholomew.

1800W    A quarter century of sequencing: Lessons learned and best practices for high quality genome sequencing at any scale. M. Costello.

1801T    CLIA whole genome sequencing and genotyping data at scale. T. Howd.

1802F    Adapting long-read sequencing technologies for targeted and single cell applications. S. Iyer.

1803W    Generating high-quality reference human genomes using PromethION nanopore sequencing. M. Jain.

1804T    Sequencing by expansion: A novel technology enabling clinical DNA sequencing. M. Kokoris.

1805F    Single-tube solutions to streamline DNA library preparation and improve sequencing results while lowering costs. H. Liu.

1806W    Nanobind magnetic disks for rapid high MW DNA extraction and library preparation in long-read sequencing and optical mapping applications. K.J. Liu.

1807T    Normalase – a novel library normalization tool for high-throughput NGS. D. Masser.

1808F    A multi-omics approach to reappraising the protein-coding gene count in GENCODE. A. Frankish.

1809W    Quantitation and QC measurements for predicting downstream NGS success with FFPE and circulating cell-free DNA plasma samples. J. Mook.

1810T    Automated FFPE purification using Maxwell HT DNA FFPE Isolation System. L.S. Steffen.

1811F    No-amp targeted SMRT sequencing using a CRISPR-Cas9 enrichment method. I. McLaughlin.

1812W    Rapid library preparation using a bead-linked transposome for enrichment (eBLT). R.C. Tim.

1813T    Clinical metabolomics: A pivotal tool for the diagnosis and treatment of inherited metabolic disorders to enable precision medicine. N. Liu.

1814F    New application of human-based methyl-capture sequencing for DNA methylome analysis in non-human primate. J.R. Lee.

1815W    Combining barcode libraries with targeted gene expression for single-cell genetic analysis. A. Chenchik.

1816T    Demonstration of the successful extraction, library preparation, and sequencing of RNA from exosomes from plasma/serum samples frozen from the last decade. J. Garifallou.

1817F    Sensitive and specific detection of low-frequency variants from degraded and cell-free DNA samples using a novel library preparation method. A.H. Potts.

1818W    Xdrop: A new droplet-based technology for targeted long-read sequencing. A. Ameur.

1819T    Leveraging advances in uniformity and on-target rates to maximize coverage and reduce sequencing in first-pass designs of custom NGS target enrichment panels. R.I. Zeitoun.

1820F    A fast and reproducible RNA-seq library prep with improved sensitivity and specificity across a broad range of RNA inputs. Y. Jin.

1821W    GRASS-C: Graph-based RNA-seq analysis in single cell level subgraph clustering. H. Yang.

1822T    Utilizing a PCR-based method to generate high confidence indel genotyping results as an orthogonal confirmation of NGS-identified variants. K. Larkin.

1823F    Molecular barcode thresholding and unique dual sample indices reduce/eliminate index cross talk/hopping between NGS libraries to improve variant calling accuracy. B. Mullinax.


Epigenetics and Gene Regulation

 

1824W    DNA methylation age in type 1 diabetes. D. Roshandel.

1825T    Allelic differences in adipocyte chromatin accessibility identify putative functional variants and mechanisms at loci associated with adipose tissue gene expression. K.W. Currin.

1826F    Type 2 diabetes epigenome data repository and resource. Y. Sun.

1827W    Parallel accelerated evolution in hibernating mammals identifies novel non-coding regions for shaping behavioral and metabolic traits linked to various human diseases. E. Ferris.

1828T    Functional genomics implicates folliculin as putative causal gene for diabetic retinopathy. M. Grassi.

1829F    Loss of star strand miR-192 resulted in liver steatosis to compensate for hyperglycemia in diabetes. KK. Miu.

1830W    The accessible chromatin landscape of pancreatic islet cell populations. M. Okino.

1831T    Impact of pre-gestational body mass index and midgestational weight gain on DNA methylation of candidate CpG sites. J.O. Opsahl.

1832F    Systematic analysis of genetic variants with allelic effects on transcription factor binding. Y. Qiu.

1833W    DNA methylation of TGF-β1 gene in T2DM associated nephropathy. S. Singh.

1834T    Of the relationship between the adipose transcriptome and diabetes, insulin resistance and polygenic risk scores: thousands of transcripts in adipose tissue are associated with diabetes status, fasting insulin levels and insulin resistance PRS. K.S. Small.

1835F    Integration of epigenomic profiles from islet developmental precursors with genome-wide association data reveals contributions of developmental processes to type 2 diabetes risk. A. Wang.

1836W    Role of breastfeeding on epigenetic mechanisms underlying early-life growth trajectories. L. Briollais.

1837T    Differentially methylated loci in NAFLD cirrhosis are associated with key signaling pathways. J.K. DiStefano.

1838F    Characterization of open chromatin and chromosomal interactions in human primary adipocytes reveals environment-responsive cardiometabolic GWAS loci. K.M. Garske.

1839W    Epigenomic map of human liver reveals principles of zonated morphogenic and metabolic control. J. Hampe.

1840T    Genetic variation affects browning potential of white adipose tissue through genome-epigenome interactions at the Ucp1 enhancer. Y. Hiraike.

1841F    Epigenome-wide association study of change in body mass index and glycaemic trait levels from young- to middle adulthood in 595 Northern Finland Birth Cohort 1966 participants. I. Prokopenko.

1842W    High-dimensional mediation analysis in causal inference framework. Y. Song.

1843T    Integrating epigenetic maps and genetic fine-mapping implicates tissues of action and effector transcripts at loci associated with type 2 diabetes. J.M. Torres.

1844F    Exploration of DNA methylation sites associated with adiponectin levels based on a gene co-expression network and DNA methylation data analysis. M. Nakatochi.

1845W    Association of miR-421 expression with adiponectin homeostasis and insulin resistance in metabolic syndrome patients. R.H. Bortolin.

1846T    Investigation of the impact of a nutritional intervention in the first year of life on DNA methylation in a cohort of children. V.S. Mattevi.

1847F    Type 2 diabetes risk variants affect NOTCH2 activity in the liver. S. Huang.

1848W    CRISPR-derived deletion of Crebrf exon 5 in 3T3-L1 preadipocytes identifies Rab12 as a major CREBRF target regulating mTORC1 activity and autophagy. S.L. Rosenthal.

1849T    Evaluation of X-chromosome inactivation in female heterozygotes with Fabry disease: Combination of methodical approaches. M. Reboun.

1850F    Chromatin accessibility differences between preadipocytes and adipocytes aid identification of regulatory elements at cardimetabolic trait GWAS loci. H.J. Perrin.

1851W    Down regulation of miR-574-3p associated with low HDLc concentration in obesity patients. R.C.C. Freitas.

1852T    Identification of a transcriptional metabolic hub in adipose tissue using a cis mediated trans eQTL analysis. D.Z. Pan.

1853F    The long intergenic, non-coding RNA, OLMALINC, regulates lipid metabolism by regulating SREBP2 and SCD1. J.N. Benhammou.

1854W    Identification of functional susceptibility variants in non-coding regions of genome and exploration of their regulatory mechanisms for asthma. T.L. Yang.

1855T    Changes in DNA methylation identify response to treatment with methotrexate and TNF inhibitors among rheumatoid rrthritis patients. C. Adams.

1856F    Genetic regulation of FCGR2A expression and its implications for immunity and disease. J. Dahlqvist.

1857W    Functional dissection of cis-regulatory variants associated with autoimmunity. A. Jajodia.

1858T    Genetic control of transcription factors in immune cells. N. Soranzo.

1859F    Genome-wide cell-type proportion deconvolution using DNA methylation sequencing in purified and heterogeneous white blood cells. W.A. Cheung.

1860W    Slipping through the cracks: Migration through a small pore disrupts inactive chromatin organization in neutrophil-like cells. E. Jacobson.

1861T    Immune disease variants modulate gene expression through enhancers specific to CD4 regulatory T cells. L. Bossini-Castillo.

1862F    DNA methylation signatures of Crohn’s disease largely a consequence of inflammation. H.K. Somineni.

1863W    Cis regulatory variation determines dynamic HLA-DQB1 allelic expression in response to T cell activation at RNA and protein levels. M. Gutierrez-Arcelus.

1864T    Systematic identification of DNA regulatory elements for GATA3 in human T cells. H. Chen.

1865F    Characterizing human immune response with implications for understanding autoimmune trait architecture. D. Calderon.

1866W    LncRNA-HBBP1 promotes the imbalance degration of α and β globin by ubiquitin-dependent pathway to aggravate anemia in β-thalassemia. J. Ma.

1867T    miRNAs may contribute to pediatric-onset multiple sclerosis by affecting immune signaling. B. Rhead.

1868F    The long non-coding RNA gene NeST influences basal immune state, antiviral responses, and ulcerative colitis phenotype in mice. O.M. de Goede.

1869W    Characterizing host-pathogen gene interaction networks using weighted gene co-expression network analysis (WGCNA). A.C. Shetty.

1870T    Deciphering and modelling of the regulatory network controlling dendritic cell differentiation from human monocytes. A. Medina-Rivera.

1871F    Inflammatory bowel disease causal SNP rs1887428 regulates JAK2 expression via allele-specific binding of RBPJ and CUX1. C.J. Cardinale.

1872W    Does spacing matter? A comprehensive study on the spatial constraint of transcription factor binding sites in mouse macrophages. Z. Shen.

1873T    Identification of genes escaping X-inactivation and the variability of escape across cells, tissues and twin pairs. A. Zito.

1874F    Epigenome-wide association study for IgA nephropathy in Chinese population. Y. Lin.

1875W    Cyclin-dependent kinase inhibitor 1B (CDKN1B) promoter variant and Systemic Lupus Erythematosus (SLE) susceptibility. B. Singh.

1876T    Whole genome sequencing shows contribution of de novo noncoding variants to congenital diaphragmatic hernia. A. Kitaygorodsky.

1877F    Epigenomic signatures of disease progression in Wilson disease liver and blood. C.E. Mordaunt.

1878W    Using epigenetic age to investigate tissue origin in endometriosis. K. Leap.

1879T    Gene expression profiling of liver tissue biopsies, PBMCs, and monocytes to predict treatment response for patients with alcoholic hepatitis. N. Siddiqui.

1880F    Comparative developmental study of mesenchymal stem cell differentiation in primates. G. Housman.

1881W    Identification of novel key genes and pathways related to Hidradenitis suppurativa and its comorbidities using genome-wide DNA methylation analysis. S. Vishweswaraiah.

1882T    Global methylation and transcriptional changes following endothelial cell activation during infection and autoimmunity. X. Shao.

1883F    Identification of hypermethylation of rDNA as an epigenetic regulator of rRNA expression in brain of Alzheimer's disease's patients. T.C. Faria.

1884W    Alzheimer disease associated changes of RNA editing in temporal cortex and whole blood affects targetable pathways. O.K. Gardner.

1885T    DNA methylation analysis of cognitive decline and neuropathology. A. Lu.

1886F    DNA hypomethylation in blood links B3GALT4 ganglioside and ZADH2 prostaglandin pathways to Alzheimer’s disease. A. Madrid.

1887W    Identification of genes regulated by H3K9 acetylation in brains of Alzheimer's disease patients: A ChIP-Seq approach. D.A. Santana.

1888T    Transcriptomic association analysis with Alzheimer’s disease related traits in ROS/MAP, MSBB and Mayo Clinic cohorts. C. Zhang.

1889F    A suppressor screen in Mecp2 mice implicates the DNA damage response in Rett syndrome pathology. A. Enikanolaiye.

1890W    Placental DNA methylation at the interface of genetics and environment in the MARBLES prospective autism study. Y. Zhu.

1891T    Alcohol abuse associated allele specific expression and regulation in human brain tissue. X. Rao.

1892F    Screening of drugs conferring an increase in miRNA that is deficient in Huntington’s disease. H. Shimizu.

1893W    Leveraging brain cortex-derived molecular data to elucidate epigenetic drivers of neurological function and disease. C. Hatcher.

1894T    Human neuronal models of CHD2-associated epilepsy. K.J. Lamar.

1895F    Three-dimensional chromatin organization and gene regulation in human brain cells. M. Song.

1896W    ­Investigating cell type-specific promoter usage to uncover new biology: Defining the role of SOX10 in myelination. E. Fogarty.

1897T    Single cell analysis of Alzheimer's disease. M. Kellis.

1898F    The spliced lncRNA SNORD116HG is essential for the high order chromatin dynamics of the MAGEL2 and NDN locus over long distance. S. Horike.

1899W    Hypermethylation of the FXN gene as a predictive biomarker of drug response for HDAC inhibitor treatment in Friedreich ataxia. L.N. Rodden.

1900T    The correlation between the hydroxymethylome and the transcriptome. D.W. Sant.

1901F    DNA methylation changes associated with Parkinson’s disease progression: Outcomes from the first longitudinal genome-wide methylation analysis in blood. A. Henderson-Smith.

1902W    A comprehensive approach to study the epigenome of monocytes in persons with Parkinson disease and matched healthy controls. J. Zhu.

1903T    Unsupervised clustering of spatially resolved single nucleus chromatin accessibility reveals cell-type and region specific transcriptional control in the mouse primary motor cortex. R. Fang.

1904F    Epigenomic convergence of genetic and immune risk factors in autism brain. A. Vogel Ciernia.

1905W    DNA methylation in the hippocampus contributes to anxious temperament in young primates. R.S. Alisch.

1906T    Cell type specific methylome-wide studies in brain and blood implicate inflammation and neurodegenerative processes in major depressive disorder. R.F. Chan.

1907F    Neural cell adhesion molecule 1 (NCAM-1) is associated to long-term memory in nematodes and humans. P. Mastrandreas.

1908W    A comprehensive study of epigenetic signatures associated with PTSD in two independent African populations of severely traumatized individuals. V. Vukojevic.

1909T    Neuron and glia specific methylome-wide association studies of schizophrenia post-mortem brain samples identify unique loci not detected in bulk tissue. K.A. Aberg.

1910F    LCM-Seq: Single cell-type transcriptomic profiling in post-mortem brain of abused suicides. D. Almeida.

1911W    Ethnic and sex-specific induction of G-protein coupled receptor 15 expression in smokers. A. Andersen.

1912T    DNA methylation profiles of monozygotic twins discordant for ADHD by Illumina MethylationEPIC BeadChip microarray. T.V.M.M. Costa.

1913F    Neural-derived biomarkers for antidepressant response from plasma exosomes. S. Saeedi.

1914W    Genome-wide profiling of DNA methylome and transcriptome in peripheral blood monocytes for major depression: A monozygotic discordant twin study. Y. Zhu.

1915T    Molecular changes that drive abnormal cortical development following mid-gestational Poly(I:C)-mediated maternal immune activation. C.P. Canales.

1916F    Sex hormones regulate SHANK gene expression. A. Eltokhi.

1917W    Parallel enhancer analysis in mouse brain to characterize regulatory variants in development and disease. J.L. Haigh.

1918T    Associations between KIBRA (WWC1) gene methylation and cognitive abilities in a childhood monozygotic twin difference design. C.R. Lewis.

1919F    An integrated genetic and epigenetic approach identified new candidate genetic loci for narcolepsy. M. Shimada.

1920W    Positive and negative co-expression with COMT in four brain areas. J.L. Dannemiller.

1921T    Small nucleolar RNAs in major depression and antidepressant response. R. Lin.

1922F    DNA methylation and three dimensional chromatin structure of the IRXA gene cluster in human cocaine dependence. K. Vaillancourt.

1923W    Co-expression patterns define epigenetic regulators associated with neurological dysfunction. L. Boukas.

1924T    Whole-genome bisulfite sequencing of Down syndrome cortex reveals regional DNA hypermethylation of active chromatin states and novel disorder insights. B.I. Laufer.

1925F    5-Aminolevulinic acid may ameliorate the cognitive function of patients of ATR-X syndrome. T. Wada.

1926W    MiRNAs involvement in the Fragile X-associated Disorders development. A.A. Dolskii.

1927T    (CGG)n repeat instability and active transcription in human tissue culture. I.V. Grishchenko.

1928F    FASD as an experimental model of an epigenetic neurodevelopmental disorder. B. Alberry.

1929W    Common mitochondrial DNA variants implicated in variations in mitochondrial oxidative activity. N. Cai.

1930T    Conserved roles for CHD7, the chromatin remodeler mutated in CHARGE syndrome, in transcriptional elongation of genes involved in neural, neural crest, and inner ear development. E. Ritter.

1931F    Submicroscopic deletions underlying congenital microcoria modify the regulatory landscape of chromosome 13q32.1. L. Fares Taie.

1932W    Induced pluripotent stem cell-derived retinal pigment epithelium is an effective model system to study regulatory genetic variation associated with age-related macular degeneration. E.N. Smith.

1933T    ClinTAD: A tool for copy number variant interpretation in the context of topologically associated domains. J. Spector.

1934F    Disrupted chondrocyte Sox9 expression underlies growth retardation in a mouse model of Kabuki syndrome. J.A. Fahrner.

1935W    Identification of putative epigenetically regulated key genes and pathways related to nonsyndromic cleft lip and palate using genome-wide DNA methylation analysis. N.M. Saiyed.

1936T    Therapeutic trial with an HDAC inhibitor in Rubinstein-Taybi syndrome. D. Lacombe.

1937F    Investigation of the effect of allelic deletion of an enhancer element in the critical region of the 9p deletion syndrome using CRISPR/Cas9 and real-time quantitative PCR. X. Hauge.

1938W    CHARGE Syndrome in a 22 year old patient of Bogota-Colombia: Report case with a c.5458C>T mutation of the gene encoding CHD7. D. Arteaga.

1939T    DNA methylation signatures of BAF complex disorders demonstrate functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. B. Sadikovic.

1940F    Identification of a unique DNA methylation signature associated with Nicolaides-Baraitser syndrome. R. Weksberg.

1941W    Maternal effect variants in subcortical maternal complex members cause imprinting disorders. T. Eggermann.

1942T    Utilizing dCas9 directed chromatin loop reorganization to unsilence the paternal UBE3A allele in LUHMES neuronal cell line. O. Gutierrez Fugón.

1943F    Comparisons of chromosome-wide DNA methylation patterns between maternal and paternal UPD16 reveal evidence for additional imprinted regions. K.V. Schulze.

1944W    Complete lung agenesis in three fetuses harboring a 659kb 7q36 TAD-disrupting tri/tetraplication neighboring SHH. L. Van Maldergem.

1945T    The chromatin accessibility signature of aging in human blood leukocytes stems from CD8+ T cells. D. Ucar.

1946F    Persistence of differential DNA methylation related to prenatal smoking exposure and the effects on later life health outcomes. V. Karhunen.

1947W    A decade of epigenetic change in aging twins: Genetic and environmental contributions to longitudinal DNA methylation. C.A. Reynolds.

1948T    Mitochondrial DNA copy number (mtDNA-CN) influences nuclear DNA methylation at CpGs associated with neuroactive ligand-receptor pathway interactions. C.A. Castellani.

1949F    Biological aging is associated with stress and gene expression during pregnancy. A.K. Knight.

1950W    Effects of miRNAs that are predominantly present in young mouse plasma on myogenic differentiation and muscle regeneration. M. Fukuoka.

1951T    Vegetarian diets, circulating miRNAs and healthspan in humans. T. Liu.

1952F    scaRNA1 levels alter pseudouridylation in spliceosomal RNA U2 affecting alternative mRNA splicing and development. C.K. Nagasawa.

1953W    Gene-environment interactions in asthma: RV and the 17q locus. B.A. Helling.

1954T    Tissue-specific RNA editing in diversity outbred mice. A. Srivastava.

1955F    A first generation map of genome-wide methylation correlation suggests long-range genomic coordination and has implications for disease-mapping. A. Jajoo.

1956W    Understanding human puberty-associated genes using 3’UTR-seq of the mouse hypothalamus and pituitary gland during postnatal development. H. Hou.

1957T    A fast and streamlined method for methylome insights from various DNA samples. I. Andreou.

1958F    COPD and IPF overlap GWAS SNP rs2076295 regulates desmoplakin expression. S. Bates.

1959W    Null findings in epigenome-wide association studies: Lack of power or lack of associations? T. Battram.

1960T    Up-regulation of SMN transcript is associated with a disease susceptibility in Weaver syndrome? K. Hosoki.

1961F    Growth disrupting mutations in epigenetic regulatory genes are associated with abnormalities of epigenetic aging. A.R. Jeffries.

1962W    Finding the missing heritability of complex disease: Optimization of the Assay for Transposase-Accessible Chromatin using Sequencing (ATAC-seq) for genome-wide examination studies. L.R. Main.

1963T    Site-directed manipulation of DNA methylation in cells In Vivo and the effect on alternative splicing. R. Shayevitch.

1964F    DNA methylome and whole transcriptome analyses identify genes potentially contributing to phenotypic differences in a set of monozygotic twins with Gaucher disease. N. Tayebi.

1965W    1.1% of the global DNA is methylated in human amniotic fluid stem cells. P. Upadhyaya.

1966T    Incorporate measurement errors in epigenome-wide association studies. W. Guan.

1967F    Estimating cell type abundance in GTEx enables insights into cellular mechanisms and origins of eQTLs. F. Aguet.

1968W    Validation of causal variants underlying eQTLs in LCLs and iPSCs by CRISPR/Cas9 genome editing. KA. Barr.

1969T    Validation of cis-regulatory transcript variants using fine-mapping and CRISPR/Cas9 genome editing. M. Brandt.

1970F    Human cytomegalovirus UL23 protein regulates transcription of interferon-γstimulated genes. H. Li.

1971W    Novel regulators of CFTR gene expression in airway epithelial cells. M. NandyMazumdar.

1972T    Regulatory role of chromosome 11p13 in cystic fibrosis lung disease severity. H. Swahn.

1973F    Epigenetic marks at major histocompatibility complex affect male fertility. S. Sarkar.

1974W    Epigenetics of cyanogenic toxicity of dietary origin: The model of konzo. K. Kocher.

1975T    Integrative genomic analysis of microRNA transcriptional responses to malaria infection. A. Diawara.

1976F    Regulatory network of transcription factors determining CYP3A4 expression: Identified with mathematical modeling and CRISPR-mediated genome editing. D. Wang.

1977W    Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts. L. Feuk.

1978T    The accessible chromatin landscape of the hippocampus at single-cell resolution. K.A. Torkenczy.

1979F    WBSCR22: A genetic basis for lateralization of the magnocellular visual system? D.L. Mills.

1980W    Genetic effects on promoter usage are highly context-specific and contribute to complex traits. K. Alasoo.

1981T    Accurate prediction of chromatin conformation status using deep neural network model. H. Uryu.

1982F    X chromosome aneuploidy alters the epigenetic landscape and gene expression genome-wide. G.N. Filippova.

1983W    Characterization of large familial copy number variation in regions of low gene density and chromatin accessibility. W.A. Khan.

1984T    Using humanized mouse models to understand the role of human accelerated regions in human evolution. E.V. Dutrow.

1985F    Evaluation of a targeted custom capture bisulfite sequencing approach. D. Daley.

1986W    Systematic mapping of chromatin state and accessibility during mouse fetal development. D.U. Gorkin.

1987T    Collecting roadmap and ENCODE data into reference epigenomes. J.A. Hilton.

1988F    Rare genetic variation at transcription factor binding site modulates local DNA methylation profiles. A. Martin Trujillo.

1989W    An atlas of epigenetic signatures across the human phenome associated with polygenic burden of disease. T.G. Richardson.

1990T    Exposure to polybrominated biphenyl (PBB) associates with DNA methylation differences across the genome. S.W. Curtis.

1991F    Trans-eQTL analysis informs tissue-specific regulation of gene expression. A. Battle.

1992W    Fine-mapping regulatory variants across 49 tissues. A. Brown.

1993T    Tissue-variability of eQTL effects and the role of transcription factors. E.D. Flynn.

1994F    Human skeletal muscle trans-eQTL meta-analysis identifies potential biological connections across chromosomes. L. Guan.

1995W    Conserved DNA methylation helps drive tissue-specific gene expression differences across primates. L.E. Blake.

1996T    Gene circuitry mapping is a powerful tool for identification of druggable targets and appropriate chemistries for therapeutically relevant outcomes. D. Bumcrot.

1997F    Mapping gene regulatory dynamics during cardiomyocyte differentiation at single cell resolution. R. Elorbany.

1998W    Hi-C-based characterization of the landscape of physically interacting regions and interaction mechanisms across six human cell lines using HiPPIE2. P.P. Kuksa.

1999T    High resolution genetic mapping of causal regulatory interactions in the human genome. N. Kumasaka.

2000F    Characterizing the genetic basis for variation in m6A methylation. K. Luo.

2001W    Genetic loci associated with inter-individual variation in alternative polyadenylation and PolII pausing provide new insight into the gene regulatory code. B.E. Mittleman.

2002T    Detection and replication of rare variant driven gene expression outliers via joint modeling of total and allele-specific expression. B. van de Geijn.

2003F    Conserved enhancer domains reflect gene pathogenicity and evolutionary buffering of expression. X. Wang.

2004W    Methylation quantitative trait loci in CD4+T lymphocytes, monocytes, and neutrophils in Japanese individuals. S. Komaki.

2005T    Penalized functional regression method for across-platform imputation of methylation levels. G. Li.

2006F    Exploring the longitudinal association between loneliness and methylation of genes associated with the Conserved Transcriptional Response to Adversity (CTRA). D. Phillips.

2007W    Identification of rare genetic variants contributing to tissue-specific patterns of extreme expression. N.M. Ferraro.

2008T    High-throughput untranslated region engineering and screening. J. Cao.

2009F    Extensive differential gene expression by sex in human skeletal muscle tissue. S.C. Hanks.

2010W    Variance QTL mapping in human induced pluripotent stem cells. A.K. Sarkar.

2011T    Multi-tissue analysis of mitochondrial post-transcriptional methylation. A.T. Ali.

2012F    A limited set of transcriptional programs define major histological types and provide the molecular basis for a cellular taxonomy of the human body. A. Breschi.

2013W    Investigation of human elements regulating escape from X-chromosome inactivation in mouse models. S. Peeters.

2014T    Male-female subject-specific XCI-adjusted differential gene expression reveals changes in active-X expression of escape genes. R. Sauteraud.

2015F    Comparative analysis of the effects of sex chromosome dosage changes in Turner syndrome and Klinefelter syndrome on local and global gene expression. X. Zhang.


Developmental Genetics and Gene Function

 

2016W    Gene therapy prevents hepatic tumor development in glycogen storage disease type Ia mice at the tumor-developing stage. J.H. Cho.

2017T    Clec16a knock out mice suffer excessive weight loss, a process mediated through dysregulated lipophagy and rescued using a JAK/STAT inhibitor. R. Pandey.

2018F    A novel role for a long noncoding RNA in airway differentiation during allergic asthma. G.J. Kwon.

2019W    Loss of Cdk5rap3 impairs liver regeneration after partial hepatectomy. Y. Jia.

2020T    Non-coding TBX4 and FGF10 variants suggest complex genetics and potentially compound inheritance in acinar dysplasia of the lungs: Bridging genetics of rare and common variants. J.A. Karolak.

2021F    Long read assay of DMD mRNA reveals isoform heterogeneity in normal and Duchenne muscle. R.T. Wang.

2022W    Somatic activating mutations in MAP2K1 cause melorheostosis. J.C. Marini.

2023T    Regulation of RUNX2 gene during evolution: Functional implications in nonsyndromic craniosynostosis patients. W. Lattanzi.

2024F    The role for ribosome biogenesis in disorders of craniofacial development. K.E.N. Watt.

2025W    ER-stress involvement in the pathogenic mechanism of Spinocerebellar Ataxia 38 (SCA38). E. Di Gregorio.

2026T    Sacs R272C missense homozygous mice develop a milder ataxia phenotype than knock-out mice. R. Lariviere.

2027F    Characterization of STUB1 in zebrafish: Development of a new knock-out model to study neurodegeneration. Y. Pakdaman.

2028W    High throughput screen (HTS) using ARSACS fibroblast cytoskeletal bundling assay. N. Sgarioto.

2029T    Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells. X. Zhu.

2030F    Neuroprotective efficacy of Bacopa monnieri (Bramhi) extract: Molecular approach in Parkinson’s disease models: In vivo and in vitro study. B. Singh.

2031W    Neurobehavioral issues in the phenotypic spectrum of variations in OTX2. A. Kumar.

2032T    Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity. H. Nistala.

2033F    CEDNIK syndrome, a rare neuro-cutaneous disorder. H.K. Tiwana.

2034W    CSF1R allelic and biallelic loss-of-function lead to microglia loss in adult and respectively their complete absence in congenital brain disease. T.J. van Ham.

2035T    Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. A. Vivanti.

2036F    Neuron-specific activation of a patient mutation reveals the prominent role of forebrain excitatory neurons in SCN8A epileptic encephalopathy. J.L. Wagnon.

2037W    Motor and metabolic impairments in a Mecp2-e1 mutant mouse model of Rett syndrome. D.H. Yasui.

2038T    Role of the DUF1220 protein domain in neurogenesis. E.A. Werren.

2039F    Gabapentin therapy: Improvement in neurologic and behavioral phenotype of patient with GABRB2 and CHAMP1 dual diagnosis. A. Basunia.

2040W    Using zebrafish as a tool to model patient mutations of KCNB1 and its role in epilepsy. M.Y. Dennis.

2041T    PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy. L.A. Jolly.

2042F    In vitro functional studies of rare glutamate receptor variants define effects on receptor activity in patients. S.J. Myers.

2043W    De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. M. Nakashima.

2044T    Fragile X syndrome drosophila mutants display defects in stress odorant response: A new model for sensory processing dysfunction. F. Bolduc.

2045F    Additional fragile X related 2 (Fxr2) KO mice exhibit severe phenotypes. Y. Gu.

2046W    CRISPR/Cas9 mediated repair of Gaucher-type 2 patient mutations in iPSC-derived neural progenitor cells. K.M. Baumgarner.

2047T    Modeling microcephaly in a monkey model by disrupting the ASPM gene via CRISPR/Cas9. X. Guo.

2048F    Mutations in transmembrane domain 4 of GRIA3 are responsible for a specific movement disorder. J. Piard.

2049W    A Drosophila model of PIGA deficiency, an ultra-rare X-linked intellectual developmental disorder. E. Coelho.

2050T    The different regions in the central of exon 7 (+11~+40) has different effect on the splicing of SMN exon7. Y. Qu.

2051F    Over-expression of human SMOOTHENED (SMO) induces an abnormal head phenotype in zebrafish. M. Tanima-Nagai.

2052W    Establishment of cell lines for drug screening for Alexander disease using glial fibrillary acidic protein cellular localization. J. Tulyeu.

2053T    De novo AMPAR GRIA variants associated with neurological diseases. W. Xiangwei.

2054F    Relapsing remitting multiple sclerosis and its relationship with the immunology system and with the oxidative stress. A.P. Soto Brambila.

2055W    Homozygous variants in newly described genes in early childhood-onset autism spectrum disorder: How to proceed? Y. Anikster.

2056T    Evaluating genetic causation and personalized pharmacological treatment of an ultra-rare disease associated with deletion of CACNG2. M.L. Kleiber.

2057F    NSD1 overexpression recapitulates the phenotype of the 5q35.2-5q35.3 duplication syndrome and unveils a potential treatment for its undergrowth phenotype. C.C. Eno.

2058W    Oligogenic effects of 16p11.2 copy number variation on craniofacial development. Y. Qiu.

2059T    Alternative splicing of FMR1 gene is complex: More spliced products and more splicing patterns are discerned in the single-gene transcriptome from the disease gene of fragile X syndrome and FXTAS. F. Lan.

2060F    The hnRNP gene family as a model for understanding neurodevelopmental disorder subtypes. M.A. Gillentine.

2061W    Using Xenopus laevis as a model for studying genes associated with intellectual disabilities. M. Lasser.

2062T    Linking chromatin biology to autism neuropathology with ASXL3. S.E. Marlow.

2063F    A novel homozygous splice site donor alteration in NT5C2 gene leading to spastic diplegia cerebral palsy, developmental delay and microcephaly. M. I. Naseer.

2064W    Baraitser Winter cerebrofrontofacial syndrome patient iPSC derived cerebral organoids show abnormal neuronal development. I. Niehaus.

2065T    NUP50 biallelic pathogenic variants as a novel genetic cause of neurodevelopmental disorder? S. Moutton.

2066F    Biallelic mutations in the death domain of PIDD disrupt interactions between PIDD and CRADD and cause intellectual disability. T.I. Sheikh.

2067W    Characterizing the phenotypic presentation of an international sample of children with 48, XXXY and the impact of testosterone replacement therapy (TRT). P. Lasutschinkow.

2068T    Role of RIPK3-mediated necroptosis on the pathogenesis of incontinentia pigmenti. M.V. Ursini.

2069F    TAF1’s association with X-linked intellectual disability: Essential neuro-specific function established by zebrafish knockout. S. Gudmundsson.

2070W    TAF1 mutations in kinase domains associated with reduced RAP74 phosphorylation in patients with X-linked intellectual disability. M. Han.

2071T    Dual diagnosis of CLTC and DNMT3A mutation: DeMari syndrome and Tatton-Brown-Rahman syndrome (TBRS). Z. Mohamed.

2072F    Correction of the reduced GluA2 and TIMP2 in Fmr1 KO mice with adult restoration of Fmr1. R. Zong.

2073W    Beyond a molecular diagnosis: Functional studies of AHDC1 in Xia-Gibbs syndrome. M.M. Khayat.

2074T    Functional analysis of MED13L missense variants. J. Ghoumid.

2075F    A new SMN1 variant (c.835G>C, p.Gly279Arg) in YG box domain causing exon 7 skipping and is responsible for spinal muscular atrophy. JL. Bai.

2076W    Complex genetic etiology of congenital diaphragmatic hernias, a common structural birth defect. E. Bogenschutz.

2077T    Near infrared light exposure uncouples electron transport from ATP synthesis in epithelial cells. T. O. Oliver.

2078F    Polymorphism rs1052536 in base excision repair gene is a risk factor in a high-risk area of neural tube defects in China. X. Wang.

2079W    MA-43: Potential drug for mitochondrial diseases. A. Miyauchi.

2080T    Transcriptomic analysis of mammalian cell cultures deficient for enzymes involved in the TCA cycle. A.C. Santos de Medeiros.

2081F    Polymorphism in the POU4F2 influences the severity of normal tension glaucoma. J. Lee.

2082W    Ocular biometry measurements using SD-OCT in zebrafish models of myopia. W.H. Quint.

2083T    Gjb2, encoding the gap junction protein Connexin26, is required in supporting cells of the organ of Corti in a developmental stage- and cell type-specific manner. D. M. Martin.

2084F    Rhesus macaques provide new spontaneous animal models of human inherited retinal diseases. M. Raveendran.

2085W    SPECC1L regulates oral epithelial cell integrity downstream of IRF6 in palatogenesis. E.G. Hall.

2086T    Warsaw breakage syndrome: Further clinical and genetic delineation. E. Alkhunaizi.

2087F    An iPSC approach towards understanding the molecular mechanisms underlying SRCAP mutations in Floating-Harbor syndrome. R.L. Hood.

2088W    Hypomorphic mutations in the replication complex member GINS3 result in a Meier-Gorlin phenotype. K. Ahmed.

2089T    A 61 base-pair intronic deletion in Snrpb causes abnormal phenotypes in mice. S. Alam.

2090F    Craniofacial development requires glycophosphatidylinositol biosynthesis. M. Lukacs.

2091W    New candidate gene for CAKUT: Exome sequencing in human bladder exstrophy and knockdown studies in zebrafish implicate SLC20A1 as disease gene and major regulator of urinary tract development. J.M. Schmidt.

2092T    Loss-of-function mutations of TMEM260 cause autosomal recessive polycystic kidney, cerebral atrophy and cardiac malformation. T.M. Keszthelyi.

2093F    Elucidating molecular mechanisms for the expanding phenotype of POLR1A-related disorders. K.N. Weaver.

2094W    Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice. M.J. Lindhurst.

2095T    Mutation of mouse Snap29 models CEDNIK and 22q11.2 deletion syndrome. L.A. Jerome-Majewska.

2096F    Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. M. Beauchamp.

2097W    Genome-wide chromatin accessibility and transcriptome profiling identifies dysregulated hedgehog signaling in Danforth’s short tail mice. C.E. Keegan.

2098T    De novo insertion in the CHD7 gene causing a CHARGE syndrome. L. Pranckeniene.

2099F    Analysis of molecular pathway in primary fibroblasts and myoblasts of Wolf-Hirschhorn patients (WHS) by RNA-seq. P.N. Doronzio.

2100W    Multiple malformations associated with loss of function variants in ZNF462: A study of humans and zebrafish. T. Hu.

2101T    Impaired pro-angiogenesis in mesenchymal stem cells of Werner syndrome. H.H. Cheung.

2102F    The Impact of prenatal diagnosis and early hormonal therapy (EHT) on autism spectrum traits (AST) in boys with 47,XXY (Klinefelter syndrome). S. Chea.

2103W    The genetics of situs inversus totalis without primary ciliary dyskinesia. M.C. Postema.

2104T    The rare diseases clinical research network (RDCRN): Translational research in action. T.K. Urv.

2105F    The Birth Defects Research Laboratory biorepository of human fetal tissue. D. O'Day.

2106W    Non-coding mutations causing NCMD in a new family: Multimodal imaging provides insight into the development of the human macula. K.W. Small.

2107T    Genetics of cortical dysplasias and epilepsy treated surgically. C.A.B. Garcia.

2108F    Optimization of CRISPR/Cas9-mediated gene editing in monkey embryos. J. Jiang.

2109W    Pharmacogenomics role in tuberculosis treatment: A view in Peruvian patients. H. Guio.

2110T    Cohen syndrome-associated gene VPS13B is required for male fertility and spermiogenesis in mice. M. Bordessoules.

2111F    Identification of novel transcription factor in mid-brain development using alternative transcription factor binding site prediction method. H.S. Lee.

2112W    Ret loss of function leads to changes in developmental trajectories of single cells in the developing enteric nervous system of a mouse model of Hirschsprung disease. E.A. Vincent.

2113T    Biallelic inactivation of HEPHL1 impairs ferroxidase activity and causes abnormal hair phenotype. P. Sharma.

2114F    aPKC modifier genetic screen for suppressors of epithelial junctional defects in C. elegans. J.G. Montoyo-Rosario.


Complex Traits and Polygenic Disorders

 

2115W    Pilot gene expression profiles of surgical weight loss in adipose and blood. D.C. Croteau-Chonka.

2116T    Person-specific analysis of HLA-presented peptide repertoires reveals novel epitopes associated with type 1 diabetes. J. Arora.

2117F    Association analysis of type 1 diabetes in >56,000 ancestrally diverse subjects identifies novel risk loci. C.C. Robertson.

2118W    Mitochondrial DNA copy number is a heritable trait that is significantly associated with multiple metabolic phenotypes. L. Ganel.

2119T    Association study between gene expression and body mass index for middle aged Danish twins using weighted correlation network analysis. W. Li.

2120F    A single-cell transcriptomics roadmap to investigate diabetes remission induced by the central action of fibroblast growth factor 1 (FGF1). T.H. Pers.

2121W    Screening the telomeric regions and a rare variant in the development of DN in the North Indian population. A.J.S. Bhanwer.

2122T    Whole-genome sequence analysis of body mass index in the trans-omics for precision medicine (TOPMed) program. J.A. Brody.

2123F    Large trans-ethnic discovery identifies novel loci, and differing genomic and expression signatures between glycemic traits. J. Chen.

2124W    Uncovering the genetic architecture of data-driven dietary habits in UK Biobank. J.B. Cole.

2125T    Socioeconomic status associates with gene expression and DNA methylation profiles within genes of the hypothalamic-pituitary-adrenal axis in Mexican Americans. V.P. Diego.

2126F    Using genetics to test the birth weight effects of higher maternal body fat uncoupled from its adverse metabolic consequences. R.M. Freathy.

2127W    Using genetics to understand the ethnic differences in adiposity and diabetes risk. J. Harrison.

2128T    Obesity revisited: Is there a genetic basis to obesity with favorable cardiometabolic profile? L.O. Huang.

2129F    Exome-wide association study reveals missense variants associated with diabetic retinopathy in Koreans. B. Kim.

2130W    Global, multi-ethnic genome-wide association meta-analysis of body mass index. A.E. Locke.

2131T    Analysis of whole-exome sequence data to identify variants which influence Body Mass Index (BMI) via a role in adipogenesis. Y.L. Muller.

2132F    Cardiometabolic GWAS variants colocalize with subcutaneous adipose tissue cis-eQTLs. C.K. Raulerson.

2133W    Understanding how natural genetic variation alters the ER stress response. N.D. Russell.

2134T    Insights into the genetic determinants of diabetic kidney disease (DKD). R.M. Salem.

2135F    Deconstructing the genetic architectures Of BMI and eating behavior phenotypes. J.F. Shelton.

2136W    T2D disease status alters the effects of genetic variation on molecular phenotypes: A direct study. A. Viñuela.

2137T    Multi-ethnic genotyping in the GENNID study: Elucidating metabolic syndrome etiology underlying linkage regions. J.Y. Wan.

2138F    Trans-ancestral fine-mapping and causal inference of variants within urate- and gout-associated loci SLC2A9 and ABCG2. W. Wei.

2139W    Association of adiponectin gene polymorphism (-3971A/G and +276G/T) with type 2 diabetes in North Indian Punjabi population. V. Bains.

2140T    Fine mapping of T2D linked 12q24 region in Finnish families. O. Dwivedi.

2141F    Phenome-wide prediction of additional effects of antidiabetic therapies using human genetics: The UK Biobank. S.M. Figarska.

2142W    Rare variant discovery in type 2 diabetes using extremely low-coverage sequencing in large multigenerational pedigrees. S.G. Frodsham.

2143T    Influence of vitamin D receptor gene polymorphisms and three autoantibodies on susceptibility to type 1 diabetes mellitus in Kuwaiti Arabs. M.Z. Haider.

2144F    Genome-wide screen for parent-of-origin effects in the association with type 2 diabetes in American Indians. R.L. Hanson.

2145W    Genome-wide association study of diabetes progression in Chinese patients with type 2 diabetes. G. Jiang.

2146T    Association of adiponectin levels and AdipoQ gene varaints with T2D in females from Northwest Indian population. K. Kaur.

2147F    Exome-wide analysis in American Indians identifies an association between rare variants in TGM2 and type 2 diabetes. H. Kim.

2148W    Pancreatic Islet specific long non-coding RNAs variants nominally associate with insulin secretory function and type 2 diabetes in American Indians. P. Kumar.

2149T    Dysregulation of microRNAs in DR patients in Chinese Han population. Z. Li.

2150F    Advanced identification of novel genetic variants for type 2 diabetes, childhood obesity and their pleiotropic loci. X. Lin.

2151W    Process-specific genetic risk scores for type 2 diabetes reveal differential effects on mechanism, phenotype, and disease course. A. Mahajan.

2152T    Leveraging T2D specific omics data in rare variant association analysis in TOPMed. T.D. Majarian.

2153F    Genome-wide meta-analysis identifies a novel low frequency STK39 variant of large effect on risk of type 1 diabetes. D. Manousaki.

2154W    Diabetes risk loci regulate the expression of nuclear-encoded mitochondrial genes. H. Maude.

2155T    Integration of genome-wide polygenic risk scores from type 2 diabetes and related glycemic traits improves the prediction of the disease in Partners Healthcare Biobank participants. J.M. Mercader.

2156F    Distinct polymorphisms in RNLS are associated with Type 1 Diabetes (T1D) in European and African ancestry populations and implicate novel functional pathways. S. Onengut.

2157W    Chromatin accessibility patterns of a hiPSC model of islet development and type 2 diabetes risk. M. Perez-Alcantara.

2158T    Trans-ethnic meta-analysis of gestational diabetes reveals shared genetic background with type 2 diabetes. N. Pervjakova.

2159F    Altered expression of WFS1 & NOTCH2 genes associated with diabetic nephropathy in T2DM patients. S.A. Sharaf.

2160W    Association of risk factors and CAPN10, PGC-1α genes in T2D pathogenesis along with potential microRNA targets: A study from Northwest India. R. Sharma.

2161T    Development and standardization of a type 1 diabetes genetic risk score for use in newborn screening and incident diagnosis. S.A. Sharp.

2162F    Association study of three single nucleotide polymorphisms (SNPs) of TERC- a telomric gene, in diabetic nephropathy patients. G. Singh.

2163W    Identification of 28 novel susceptibility loci for type 2 diabetes in the Japanese population. K. Suzuki.

2164T    Discovery of 176 novel loci for type 2 diabetes in 790,275 individuals in a multi-ethnic meta-analysis. M. Vujkovic.

2165F    Single cell heterogeneity analysis and CRISPR screen identify key β cell-specific disease genes. C. Weng.

2166W    Subjects at the phenotypic extremes of the baseline T2D phenotype spectrum differ in genetic risk and disease progression over 36 months: a DIRECT study. A. Wesolowska-Andersen.

2167T    Type 2 diabetes and osteoporosis: A Mendelian randomization Study. Q. Zhang.

2168F    Exome sequencing identifies a nonsense variant in DAO associated with reduced energy expenditure and respiratory quotient in American Indians. P. Piaggi.

2169W    Heterozygotes for a founder mutation in SLC12A3 that causes autosomal recessive Gitleman syndrome is associated with lower serum potassium in the Amish. X. Wan.

2170T    Phenome-wide patterns of genotype-environment (GxE) interactions. R. Moore.

2171F    Genome wide assessment for resting heart rate and shared genetics with type 2 diabetes and metabolic traits. Y. Guo.

2172W    GWAS of insulin resistance measures in Hispanic/Latino adolescents from the Santiago Longitudinal Study (SLS). V.L. Buchanan.

2173T    Genome wide association study of body weight, body mass index, adiposity, and fasting glucose in 3,184 outbred HS rats. A.S. Chitre.

2174F    Targeted metabolomics and genome-wide association study identifies plasma mino acids and genetic variants associated with non-alcoholic fatty liver disease. A. Huertas-Vazquez.

2175W    Identification of 12q24 locus strongly associated with sweet taste preference in Japanese populations by genome-wide meta-analysis. K. Kawafune.

2176T    HRC-based genome-wide association study of uric acid in the Korean population. B. Kim.

2177F    Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry. S.L. Pulit.

2178W    Genetic study of birth weight resolves maternal and fetal genetic effects and provides insight into the role of the intrauterine environment on future risk of offspring cardiometabolic health. N.M. Warrington.

2179T    Whole-exome sequencing identifies rare coding variants associated with erythrocyte membrane fatty acids. X. Yin.

2180F    Systematic identification of genes underlying obesity risk in adipocytes. G.T. Hansen.

2181W    Looking beyond the nearest gene: A high throughput functional approach using tissue-specific RNAi knockdowns to move from “statistical loci” to “functional genes”. M.A. Province.

2182T    Role of FAM13A in insulin resistance: FAM13A gene expression in human and mice demonstrates tissue specific activity. A. Rao.

2183F    Togetherness of lysinuric protein intolerance and HOIP deficiency in a boy: SLC7A7 and RNF31 gene disruptions. L. Aliyeva.

2184W    Prediction of metabolic syndrome in Korean females by a genetic risk score combining SNPs for female specific metabolic syndrome-related quantitative traits. Y. Cho.

2185T    Genetic polymorphisms association with the neutrophil-lymphocyte ratio and their clinical implications for metabolic risk factors. E. Choe.

2186F    Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in Korean patients with hyperphenylalaninemia. J. Kim.

2187W    Whole-exome sequencing of Emirati population and high-risk genetic susceptibility to type 2 diabetes in Abu Dhabi. D. Simpson.

2188T    Studies of liver tissue identifies functional gene regulatory elements associated to gene expression, type 2 diabetes and other metabolic diseases. C. Wadelius.

2189F    Polygenic susceptibility underlies trajectories of weight and severe obesity from birth to adulthood. M. Chaffin.

2190W    Harnessing longitudinal data to derive a new genetic risk score for childhood obesity. S.J.C. Craig.

2191T    Association of adiponectin gene variants (+276G/T and -3971A/G) with obesity susceptibility in Punjabi population of North India. H. Kaur.

2192F    Identification of pleiotropic waist-to-hip ratio SNPs using the NHGRI-EBI catalog of published genome-wide association studies. Y. Kaur.

2193W    Identification of novel genes whose expression in adipose tissue is causally associated with obesity traits. S. Konigorski.

2194T    Association between SNPs in FTO and IRX3 and metabolic traits in population of Colombian Caribbean Coast. G.J. Mora-Garcia.

2195F    Candidate gene analyses in families with discordance for extreme obesity. M.H. Preuss.

2196W    Genome-wide association study of body fat distribution identifies novel adiposity loci and sex-specific genetic effects. M. Rask-Andersen.

2197T    Association of longitudinal body mass index (BMI) trajectories with genetic risk score in children with severe early childhood obesity (SECO). V.V. Thaker.

2198F    Obesity and personality are genetically intertwined. U. Vainik.

2199W    Genetic architecture of human obesity traits in the rhesus macaque. A. Vinson.

2200T    PheWAS of sub-components of T2D genetic risk in large-scale biobanks reveals clinical outcomes linking to physiological effects. X. Zhong.

2201F    Genome-wide association study identifies novel risk locus for erectile dysfunction and implicates hypothalamic neurobiology and diabetes in etiology. J. Bovijn.

2202W    Single nuclei RNA-seq to decipher hypothalamic transcriptional response to chronic topiramate administration. K. Ushakov.

2203T    High-resolution characterization of cellular imbalance and dysregulation in obesity-induced type 2 diabetes. J. Vijay.

2204F    Identification of death associated protein kinase 2 as a novel obesity-induced driver of non-alcoholic fatty liver disease. A. Ko.

2205W    Association between hepatic CYP7A1 activity and PGC-1α polymorphism. T. Inamine.

2206T    Common variants in NPC1L1 are not associated with response to ezetimibe treatment in the IMPROVE-IT trial. Y. Zhang.

2207F    Genetic susceptibility to low HDL-C among Filipinos. E. Cutiongco de la Paz.

2208W    GWAS of serum lipids in Africans identifies 4 novel loci. A.R. Bentley.

2209T    Genetics of hypertriglyceridemia: An assortment of polygenic effects. J.S. Dron.

2210F    Low density lipoprotein cholesterol and sepsis: A clinical and genetic approach. Q. Feng.

2211W    Genetic risk determination of hypercholesterolemia at the individual patient level. C.CF. Ma.

2212T    Replication of association between triglyceride level and SLC25A40 in a multi-ancestry sample. E.A. Rosenthal.

2213F    Best practices for polygenic risk score modeling of laboratory values from biobank data: Application to blood lipid levels. J. Dennis.

2214W    Identifying genetic determinants of osteoporosis and obesity in postmenopausal women. S. Zhou.

2215T    Genetic polymorphism of LDLR (rs688) and correlation of inflammatory marker with genetic damage in patients with hypercholesterolemia. M. Monu.

2216F    Genome-wide association studies of ezetimibe response in IMPROVE-IT trial. G. Kosova.

2217W    Linking genome to phenome through lipidomic profiles identifies disease susceptibility genes. R. Tabassum.

2218T    Family-based heritability of statin low-density lipoprotein cholesterol response. A. Oni-Orisan.

2219F    Causal association of lipid fractions with estimated glomerular filtration rate. A multivariable Mendelian randomization analysis of the HUNT Study, Norway. H. Rasheed.

2220W    Regional genomic heritability analysis of waist circumference in a Japanese population. O. Gervais.

2221T    Genome-wide association study identifies 4 novel loci with metabolites in East Asians. J.F. Chai.

2222F    Differential gene expression and large-scale lipid molecular species quantitation during human macrophage activation. M.K. Lin.

2223W    Effects of delivering SLCO1B1 genotype-informed statin therapy on cholesterol levels: Analysis of commercial laboratory data. D. Voora.

2224T    eQTL mapping in CD4+ T cells from the Barbados asthma genetics study (BAGS). S. Chavan.

2225F    Gene co-expression networks are associated with asthma and reveal diverse molecular signatures and disease processes. K.M. Magnaye.

2226W    Shared and distinct genetic risk factors for childhood onset and adult onset asthma. M. Pividori.

2227T    QTLs detected in an airway smooth muscle cell model of gene-environment interactions identify functional candidates from bronchial responsiveness and contractile response GWAS. E.E. Thompson.

2228F    Detection of new genetic variants associated with eosinophil-derived neurotoxin and eosinophil cationic protein levels using bivariate genome-wide association study. R. Vernet.

2229W    FUT2 variants confer susceptibility to familial otitis media. R.L.P. Santos-Cortez.

2230T    Multiple sclerosis genetic risk score distribution and utility across diverse populations. A. Beecham.

2231F    Proteomic profiling of T cells from multiple sclerosis patients and healthy controls. T. Berge.

2232W    Generation of humanized MHC knock-in mice to study immune-related phenotypes. P. Chen.

2233T    DNA methylation profiles separate clinical subtypes of Sjögren’s syndrome. C. Chi.

2234F    Whole exome sequencing of more than 16,500 hypothyroidism cases from a clinical cohort implicates a role for protein altering variants in novel and known autoimmunity genes. J. Freudenberg.

2235W    Characterizing oxysterols as a moderator of inflammation and mediator of remyelination in multiple sclerosis. S.G. Gregory.

2236T    Epigenomic dissection of multiple auto-immune disorders using H3K27ac ChIP-seq across 200 individuals. L. Hou.

2237F    Shared underlying genetic susceptibility to Crohn's disease and leprosy in East Asians. S. Jung.

2238W    Phenome-wide scan of genetic liability of multiple sclerosis using UK Biobank. R.E. Mitchell.

2239T    A comprehensive analysis of 94 SLE loci identifies multiple novel functional SNPs and their target genes. J.E. Molineros.

2240F    HLA-DQA1*05 is associated with the development of antibodies to anti-TNF therapy. A. Sazonovs.

2241W    Functional study of Peptidylarginine Deiminase genes in arthritis model mice. A. Suzuki.

2242T    Molecular analysis of a skin equivalent tissue culture model system of systemic sclerosis using RNA sequencing, epigenetic assays, histology, and immunoassays. D.M. Toledo.

2243F    Pathway-analysis using datasets of GWAS and mRNA expression array identified IFNG as the most significant upstream-regulator in primary biliary cholangitis in the Japanese population. K. Ueno.

2244W    Subphenotype analysis of systemic lupus erythematosus and identification for loci with lupus nephritis predisposition. H. Zhang.

2245T    Development of a genetic testing method by next-generation sequencing for screening of Thalassemia mutations. Y. Cao.

2246F    Exploration of disease susceptibility HLA alleles for cold medicine-related Stevens-Johnson syndrome with high resolution NGS-based HLA typing. K. Nakatani.

2247W    Genome-wide association study of shellfish allergy in Japanese population. K. Saito.

2248T    Disease-specific regulation of gene expression in a comparative analysis of juvenile idiopathic arthritis and inflammatory bowel disease. A. Mo.

2249F    A novel locus near CXCL12 is associated with HIV-related non-Hodgkin lymphoma. C.W. Thorball.

2250W    Development and validation of NUDT15 and TPMT genotyping kit based on real-time PCR method for dosing recommendation of thiopurine drugs. W. Lee.

2251T    Non-HLA celiac disease susceptibility loci are associated with early disease onset and the severity of clinical symptoms. J.X.M. Cerqueira.

2252F    Meta-analysis of genome-wide association studies for inflammatory bowel diseases in Korean population. B.M. Kim.

2253W    Genetic analysis of inflammatory markers reveals novel genetic associations and highlights the power of multivariate GWAS. J. Partanen.

2254T    Molecular prediction in inflammatory bowel disease. R. Liu.

2255F    Phenome-wide association study (PheWAS) for sex biases in Human Leukocyte Antigen (HLA) associations. J.H. Karnes.

2256W    Co-evolution between Mycobacterium and humans influences tuberculosis severity. C.M. Stein.

2257T    Using in vivo eQTL interactions to identify the genetic drivers of variation in the transcriptomic response to sepsis. E.E. Davenport.

2258F    Genome-wide meta-analysis and functional analysis identified POGLUT1 as the effector gene driven by rs2293370 in primary biliary cholangitis (PBC) susceptibility locus chromosome 3q13.33 in the Japanese population. Y. Hitomi.

2259W    The eQTL analysis on blood tissues of a cohort of Korean Crohn's disease patients. B.D. Ye.

2260T    Host genetic variation for susceptibility of ascending chlamydia genital tract infection. W. Zhong.

2261F    The genetic architecture of familial vitiligo. G.H.L. Roberts.

2262W    Trans-ethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals common disease signatures. F. Degenhardt.

2263T    Whole genome sequencing to identify gene-by-air pollution interactions that influence lung function in minority children. A.C.Y. Mak.

2264F    Using ~20,000 public whole genomes to build reference panels for fine-mapping HLA effects in multi-ethnic cohorts. Y. Luo.

2265W    Validated South Asian HLA imputation and association analysis uncovers a HLA-DPB1 specific effect on hepatitis B vaccine response in infants from Bangladesh. K. Auckland.

2266T    Whole genome sequencing association analysis of red blood cell traits in a multi-ethnic population sample from the Trans-Omics for Precision Medicine (TOPMed) Project. Y. Hu.

2267F    Large-scale genome-wide association study identified candidate genes for childhood nephrotic syndrome in Japanese. X. Jia.

2268W    Novel transcriptomic analysis of total immunoglobulin E (IgE) in Puerto Rican children. Y. Jiang.

2269T    Large-scale PheWAS of the MHC region in ~170,000 Japanese using NGS-based classical and non-classical HLA imputation. Y. Okada.

2270F    Specific interaction between host immune-related genetic factors and lineage in Mycobacterium tuberculosis identified from pathogen lineage based genome-wide association study in tuberculosis. Y. Omae.

2271W    Published and novel human associations of blood cell traits in the Healthy Nevada Project cohort. K. Schlauch.

2272T    Genome-wide association study of HIV-1 subtype C in Botswana population. A.K. Shevchenko.

2273F    Genetic basis of hypoxia-induced excessive erythrocytosis: Role of SENP1 gene regulation. P. Azad.

2274W    Identification of three novel loci associated with systemic lupus erythematosus (SLE) and evaluation of SLE genetics in drug repositioning. Y.F. Wang.

2275T    Endometrial microRNA networks associated with pelvic inflammatory disease progression. L. Dong.

2276F    In-depth analysis of differential DNA methylation reveals novel disease genes and pathways in SLE. W. Yang.

2277W    Differential gene expression analysis in CD4+ T cells from the Barbados asthma genetics study. M.P. Boorgula.

2278T    Leukocyte gene expression signatures of asthma severity. J.A. Resztak.

2279F    Single-cell RNA-sequencing of bulk peripheral blood mononuclear cells from idiopathic multicentric Castleman disease (iMCD) reveals leukocyte heterogeneity underlying disease pathology. M. Gonzalez.

2280W    Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reaction and Parkinson’s disease. V.M. Fava.

2281T    Chromatin accessibility landscapes of large and small airway cells annotate multiple COPD susceptibility GWAS regions. C.J. Benway.

2282F    Phenotypic clustering reveals distinct subtypes of polycystic ovary syndrome with novel genetic associations. M. Dapas.

2283W    Characterization of the genomic and gene expression of SEMA3D in multifactorial Hirschsprung disease. .. Gunadi.

2284T    Whole genome sequence analysis of pulmonary function and COPD in >16,000 multi-ethnic participants of the NHLBI trans-omics for precision medicine (TOPMed) program identifies new associated loci. A.W. Manichaikul.

2285F    Clonal expansion and diversification of cancer-associated mutations in endometriosis and normal endometrium. H. Nakaoka.

2286W    Primary sclerosing cholangitis, a common co-morbidity in inflammatory bowel disease. J. Koskela.

2287T    Multi-omic analysis of discordant and concordant sib-pairs with inflammatory bowel disease. A.B. Stiemke.

2288F    Genetic association between human leukocyte antigen (HLA)-DR, -DQ, -DP and gallstone disease in Han Chinese. H. Yang.

2289W    Association between the SLCO1B locus and alcohol-associated chronic pancreatitis. T. Nagpal.

2290T    Discovery of novel genetic loci for kidney traits using whole genome sequencing: The trans-omics for recision medicine (TOPMed) project. B.M. Lin.

2291F    Genetic analysis of 400 patients with aHUS refines understanding and implicates a new gene in this disease. F. Bu.

2292W    Genome-wide association meta-analysis highlights the role of cholesterol and bile acid homeostasis in gallstone disease. E. Ferkingstad.

2293T    Phenome-wide association study of polycystic ovary syndrome using polygenic risk prediction. Y.Y. Joo.

2294F    Genetic variation in the SIM1 locus is associated with erectile dysfunction. E. Jorgenson.

2295W    Genome-wide association study of lipedema phenotype in the UK Biobank. Y.C. Klimentidis.

2296T    Identification of genetic loci related to circulating reproductive hormone levels by GWAS in Japanese men. Y. Sato.

2297F    Large scale GWAS meta-analyses unravel loci associated with albuminuria. A. Teumer.

2298W    Whole exome sequencing analysis in biliary atresia: A follow-up study. W.Y. Lam.

2299T    Large scale Mendelian randomization scan reveal novel pathway linking education attainment and central adiposity to gastroesophageal reflux disease. JS. Ong.

2300F    Gut microbiome and irritable bowel syndrome with or without anxiety and depression symptoms. K. H. Bahk.

2301W    Mitochondrial genetic variation is not associated with increased risk of developing uterine fibroids in African American or European American women. B.S. Mautz.

2302T    Overlap of genetic risk between computed tomography interstitial lung abnormalities and idiopathic pulmonary fibrosis. B.D. Hobbs.

2303F    Evaluation of polygenic risk scores for chronic obstructive pulmonary disease in a biobank linked to electronic health records. V.L. Martucci.

2304W    Genome-wide polygenic risk scores for chronic kidney disease in the UK biobank. H.T. Vy.

2305T    RNA-seq from human pancreatic tissue with chronic pancreatitis provides insight into etiopathogenesis and classification. C.A. Shelton.

2306F    Genetic studies of body proportion (sitting height ratio) shed light on the recent evolution of human skeletal growth. E.R. Bartell.

2307W    Translating osteoarthritis GWAS signals into therapeutic targets. L.C. McCarthy.

2308T    Integration analysis of multi-omics data for osteoporosis biomarker discovery. C. Qiu.

2309F    Cellular crosstalk between retinoic acid and pesticides: A model for understanding osteoporosis through genomic and non-genomic pathways. H.S. Sandhu.

2310W    A variant in MEGF6 gene predisposes to osteoporosis. C.C. Teerlink.

2311T    Genetic variants in ER stress signaling molecules IRE1 and XBP1 are associated with human bone and tooth phenotypes. Y. Zhou.

2312F    Comprehensive functional annotation of susceptibility SNPs associated with osteoporosis. Y. Guo.

2313W    miRNAs targeting the mechanotransduction pathway associated with osteon number in aging baboons. E.E. Quillen.

2314T    A genome-wide SNP x smoking interaction study identifies novel genetic risk loci for aggressive periodontitis in smokers and gives evidence that ST8SIA1 is regulated by tobacco smoke. A.S. Schaefer.

2315F    CRISPR/Cas9 mediated edits in osteoblast cell lines to characterize a novel osteoporosis gene, DAAM2. L. Laurent.

2316W    Large scale meta-analysis of genome-wide association studies for height in multiple ancestries. S. Vedantam.

2317T    Expression quantitative trait locus data from human osteoclasts suggests a role for the C7orf73 and DCSTAMP genes in Paget’s disease of bone. S.G. Wilson.

2318F    RNA sequencing of osteocalcin-positive blood cells from adolescent idiopathic scoliosis patients reveals abnormal expression of cytoskeletal genes. E.A. Terhune.

2319W    Investigating the GWAS-implicated loci for rheumatoid arthritis in Pakistani population. M. Aslam.

2320T    Associations between gene expression and clinical disease activity during and after pregnancy among women with rheumatoid arthritis: A pilot study. D. Jawaheer.

2321F    GWAS suggests an association between lipid metabolism and avascular necrosis of the hip. M.M. Lee.

2322W    Using co-expression network analysis to inform genome-wide association studies for bone mineral density. O.L. Sabik.

2323T    HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis. N. Dand.

2324F    Genetic susceptibility to autoimmune diseases: The vitiligo model. L.T. Martins.

2325W    Non-MHC loci associated with psoriatic arthritis reveal evidence of a potential mechanism for joint involvement. M.T. Patrick.

2326T    Association of MCP-1 and ACE genetic variants with osteoporotic population of Punjab: A pilot study. M. Singh.

2327F    Association of knee osteoarthritis with PvuII polymorphism and serum levels of Col2a1 gene. R.Nath. Srivastava.

2328W    Identification of novel risk regions from TWAS and cross-trait genetic correlations for Dupuytren’s disease. M. Major.

2329T    Investigation of CD207 and atopic dermatitis: Follow-up of a GWAS locus. L. Paternoster.

2330F    Association of CCL2 gene polymorphisms and their serum levels with susceptibility to knee osteoarthritis in North Indian population. A.Chandra. Sharma.

2331W    Targeted fine mapping and functional evaluation of chromosome 15q21-22 identifies AQP9 as a novel gene associated with keloid risk. T.L. Edwards.

2332T    Whole-genome sequencing and genome-editing implicate missense variants in LRRK2 and NOD2 in early-onset leprosy. M. Dallmann-Sauer.

2333F    Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations. M. Jordan.

2334W    Multiscale causal network models identify VGF as an Alzheimer’s disease gene. N.D. Beckmann.

2335T    Ascertainment and study design for the Resource for Early-Onset Alzheimer Disease Research (READR), a genomics resource for EOAD. G.W. Beecham.

2336F    An Alzheimer’s disease stem cell model of a rare SORL1 mutation. H.N. Cukier.

2337W    Identification of novel noninvasive disease biomarkers for susceptibility to Alzheimer’s disease progression. S. Esmaeeli Nieh.

2338T    Whole-exome sequencing (WES) analysis of Alzheimer's disease in non-APOE*4 carriers. K. Fan.

2339F    Mitochondrial variants and haplogroups associated with late-onset Alzheimer’s disease identified by whole exome sequencing. J.J. Farrell.

2340W    Convergence of biological pathways implicated by transcriptomic analysis in a multi-ethnic Alzheimer disease cohort. A.J. Griswold.

2341T    Population-based genome-wide association study of cognitive decline in older adults free of dementia. M. Kamboh.

2342F    Chromatin accessibility profiling in hiPSC-derived neurons identifies functional noncoding GWAS risk variants of Alzheimer’s disease. A. Kozlova.

2343W    Independent associations of the TOMM40 and APOE polymorphisms with risks of Alzheimer’s disease. A. Kulminski.

2344T    The Alzheimer’s disease sequencing project (ADSP) data update 2018. Y. Leung.

2345F    Use of a genetically-based biomarker risk algorithm to design Alzheimer’s disease clinical trials with outcomes based on neurocognitive measures. M.W. Lutz.

2346W    Brain expression of vascular endothelial growth factor genes relates to cognitive performance. E.R. Mahoney.

2347T    CD33 and Alzheimer’s disease: Functional and association analysis of a frame shift variant. A. Mitchell.

2348F    Transcriptomic analysis of mouse models based on candidate genes associated with Alzheimer’s disease. R.S. Pandey.

2349W    Rare coding mutations in Alzheimer disease and other dementias. D. Patel.

2350T    Use of brain homogenate RNA expression data to identify novel cell-type specific alterations in Alzheimer’s disease. I.S. Piras.

2351F    Whole genome sequencing-based rare variant analysis in 450 multiplex Alzheimer’s disease families. D. Prokopenko.

2352W    Genome-wide linkage analysis of Caribbean Hispanic Puerto Rican families supports evidence of linkage to chromosome 9. F. Rajabli.

2353T    RNA expression and DNA methylation in the Alzheimer’s Disease Neuroimaging Initiative (ADNI) data. B. Riley-Gillis.

2354F    Towards personalized health: Multimodal risk prediction models for dementia. N. Shah.

2355W    Investigation for a protective variant for the ApoEε4 allele in Alzheimer disease. J. M. Vance.

2356T    Integrative functional genomics analysis of neuropathologic features of Alzheimer’s disease and related cognition decline reveals novel insights on previously identified loci. J. Yang.

2357F    Genome-wide interaction study of brain and CSF measures of Alzheimer disease on memory impairment. C. Zhu.

2358W    Association of genetic variants/predicted gene regulatory scores with imaging-derived phenotypes in multiple sclerosis patients. K. Kim.

2359T    A multiple sclerosis CD4+ T cell methylation QTL reference map identifies the proximal functional consequences of 18 MS susceptibility variants. T. Roostaei.

2360F    A genetic modifier model for SUDEP in SCN1A driven epilepsy. P.J. Vandeventer.

2361W    Genetic architecture of the human anterior commissure. H.H.H Adams.

2362T    Multiple sclerosis genetic burden score in a systems biology study of MS patients from four countries. S.D. Bos.

2363F    Neuropathological correlates and genetic architecture of microglial activation in elderly human brain. D. Felsky.

2364W    Inositol deficiency induce autophagy impairing via PI3K/ Akt/ mTOR /p70S6K signaling. J. Guo.

2365T    Genome-wide association study of febrile seizures identifies new loci implicating synaptic and fever response genes. L. Skotte.

2366F    Cytoskeletal scaffolding protein WHIRLIN loss of function mutation in familial frontotemporal dementia. Y. Baradaran-Heravi.

2367W    Inositol deficiency induce autophagy impairing via PI3K/ Akt/ mTOR /p70S6K signaling. J. Wang.

2368T    RAD9B variants identified in neural tube defects. Y. Lei.

2369F    A Truseq RNA exome capture method for two different brain regions of restless legs syndrome patients. F. Sarayloo.

2370W    Cerebral palsy gene discovery based on whole exome sequencing of multiplex consanguineous families. S. Bakhtiari.

2371T    Utility of massively parallel targeted resequencing data for detection of copy number variants in developmental and epileptic encephalopathies. M.G. Mehaffey.

2372F    A genome-wide DNA methylation analysis of CpG-polymorphisms reveals a genetic association between a chromosome 6 locus and age of onset in C9orf72 carriers. M. Zhang.

2373W    Whole exome sequencing in epilepsy reveals significant gene burden of ultra-rare deleterious variants. Y. Feng.

2374T    A microRNA-328 binding site in PAX6 discriminates between rolandic and other epilepsies. N. Panjwani.

2375F    Genetic generalized epilepsies and parasomnias are linked to CLCN2, EFHC1 and GABRA1 genes in Colombian families. N. Pineda Trujillo.

2376W    Over 70% of pathogenic in Czech epilepsy cohort is propagated into protein domains. D. Stanek.

2377T    Exome-wide burden analysis of loss-of-function variants in Parkinson’s disease. B.I. Bustos.

2378F    A first-degree family history of Alzheimer’s disease and apolipoprotein E genotype influences cognition. J.S. Talboom.

2379W    Genetic study in Taiwan’s Hirschsprung disease. W. Yang.

2380T    Meta-analysis of migraine with over 93,000 cases and 730,000 controls identifies 124 risk loci. H. Hautakangas.

2381F    Genomic variants associated with cognitive impairment in Parkinson's disease. S. Chung.

2382W    Deep mitochondrial sequencing in Parkinson’s disease reveals possible genetic modifiers of reduced penetrance in Parkin/PINK1 mutation carriers. J. Trinh.

2383T    Phenotype-genotype characterization of a new intellectual disability syndrome with acroosteolysis: New roles for TMEM41B protein. F. Pirozzi.

2384F    Mitochondrial DNA variants and headache. S. Børte.

2385W    Variational autoencoder identifying clinically meaninful latent features in multiple sclerosis bases on blood gene expression and genetically regulated gene expression across tissue-types. L.J. Lancashire.

2386T    Rare variant analysis of efavirenz central nervous system effects using whole exome sequencing data. Y. Veturi.

2387F    The genetics of multiple sclerosis in the Northern Isles of Scotland. C.L.K. Barnes.

2388W    Blood-based RNAs distinguish cases from controls and indicate C9orf72 carrier status in amyotrophic lateral sclerosis (ALS). M.T.W. Ebbert.

2389T    Enrichment of rare protein truncating variants in patients with amyotrophic lateral sclerosis. S.M.K. Farhan.

2390F    Role of uric acid in multiple sclerosis risk and progression. M. Montierth.

2391W    Genetic study of longitudinal brain atrophy in Multiple Sclerosis shows susceptibility loci are not influencing progression. P.G. Bronson.

2392T    Prioritization of causal variants possibly associated with hippocampal volume using a massively parallel reporter assay. Y. Cooper.

2393F    Associations of genetic risk variants for cognitive impairment and for Parkinson’s disease (PD) with clinical features in PD. A. Deutschlander.

2394W    FUS p.P525L de novo mutation in sporadic juvenile ALS with aggressive progression and developmental delay. O. Goldstein.

2395T    Elucidating the role of genetic variants in known ALS-associated genes by means of targeted NGS analysis. G. Marangi.

2396F    GWAS of broadly defined ‘self-reported migraine’ identify risk loci for tension-type headache. D.R. Nyholt.

2397W    Tissue specific gene enrichment analysis reveals aberrant physiological regulations in ischemic stroke. H.N. Singh.

2398T    Mutations in VPS13C in a Belgian cohort of Parkinson disease patients. S. Smolders.

2399F    Longitudinal small RNA and whole transcriptome sequencing for over 1,500 individuals across 4,600 whole-blood samples as part of the Parkinson's Progression Markers Initiative. D.W. Craig.

2400W    Genetic etiology and prediction of the pharmacotherapy response status in epilepsy. C. Leu.

2401T    HLA risk alleles and CYP2C9 variant as predictor to prevent phenytoin hypersensitivity in Asians. S. Su.

2402F    Association of common and rare GCH1 variants with Parkinson’s disease in European and Ashkenazi Jewish populations. U. Rudakou.

2403W    Modeling the function of Parkinson's disease risk alleles using multiplexed differentiation of IPSC-derived dopaminergic neurons. J.L. Jerber.

2404T    Association of IL-16 gene with ischemic stroke in Sudanese patients: A cross-sectional study. H. Ahmed.

2405F    Functional effects of damaging mutations in RAI1 in neurons and astrocytes from patient-derived induced pluripotent stem cells. J.L. Cross.

2406W    APOE, Alzheimer’s disease, and Hispanic populations. E.E. Blue.

2407T    Understanding genetic regulatory mechanisms of neurodegenerative and psychiatric disorders by cell-type specific deconvolution of gene expression profile in brain. L. He.

2408F    Blood total cholesterol polygenic score in Alzheimer’s disease. N.I.V. Nilsson.

2409W    Whole exome sequencing of DNA from a patient with bvFTD (behavioral variant of frontotemporal dementia) reveals a deleterious SNP in MAPT gene. M. Xi.

2410T    Differences in the maternal and paternal contribution to inherited risk for autism. D. Antaki.

2411F    Investigating the genetic architecture of different autism spectrum disorder subtypes through deep phenotyping and whole-genome sequencing. A.J.S. Chan.

2412W    Replication of a risk haplotype on 1p36.33 for autism spectrum disorder. N.H. Chapman.

2413T    Both rare and common genetic variants contribute to autism in the Faroe Islands. F. Cliquet.

2414F    Genetic investigation of insistence on sameness in autism. M.L. Cuccaro.

2415W    Analysis of convergent molecular pathways during neural development using ASD-specific induced pluripotent stem cells. D.M. Dykxhoorn.

2416T    Pilot study results from SPARK: A scalable approach for genomic research in autism spectrum disorder. P. Feliciano.

2417F    Disruption of CSDE1 leads to autism and interferes with neuronal development and synapse plasticity. H. Guo.

2418W    Investigation of novel rare variants in ASTN2 in Japanese patients with autism spectrum disorders and schizophrenia. K. Ishizuka.

2419T    Shared rare recurrent copy number variations between autism spectrum disorder and attention deficit hyperactivity disorder. M.E. Khan.

2420F    Polygenic risk scores reveal subtypes of autism that differ in coding de novo mutational load. B. Lohman.

2421W    Cadherins matter to autism spectrum disorders: Which ones? M.R. Passos-Bueno.

2422T    De novo duplication on chromosome 19 observed in nuclear family displaying several neurodevelopmental disorders. C. Sjaarda.

2423F    Characterization of loss of Y chromosome in Autism spectrum disorder. S.P. Smieszek.

2424W    Association of RXFP3 gene polymorphism with co-occurring autism and obesity. Z. Talebizadeh.

2425T    Insights into the genetic architecture of autism by whole genome sequencing analyses of >3000 families. T.N. Turner.

2426F    Large-scale targeted sequencing identifies risk genes for autism and developmental delay. T. Wang.

2427W    Exploring polygenic risk scores for depression in a transgender population. A. Pandit.

2428T    The interaction between genetic variability and oral microbiome in alcohol use disorder and nicotine dependence. R. Polimanti.

2429F    Intersection of impulsive personality traits and drug experimentation: A genome-wide association approach. S. Sanchez-Roige.

2430W    Genome-wide association study of posttraumatic stress disorder in female rape victims. C.M.F. Carvalho.

2431T    Exploratory genome-wide association analysis of response to ketamine and dissociative side effects in depression. Y. Yao.

2432F    Towards an understanding of the genetic architecture of the human cortex: Examining the effects of common variants on cortical thickness and surface area. S.E. Medland.

2433W    Integration of gene expression and chromatin accessibility data to improve understanding of the genetic architecture of bipolar disorder. T. Schwarz.

2434T    GWASs of alcohol consumption and alcohol use disorder in a multi-ancestry U.S. veteran population (N=274,424) yield both overlapping and differing risk loci. H. Zhou.

2435F    Excess of missense de novo mutations in voltage-gated ion channels in neurodevelopmental disorders. M.R. Geisheker.

2436W    Molecular effects of the neuropsychiatric 15q13.3 microdeletion in an induced pluripotent stem cell model of neuronal development. S. Zhang.

2437T    Genomics of sleep disordered breathing associated with cognitive behavioral development in the Canadian Healthy Infant Longitudinal Development (CHILD) study. A. Ambalavanan.

2438F    A genome-wide association study of suicidality in the UK Biobank cohort reveals two genome-wide significant loci and substantial genetic correlation with depression-related traits. M.E.S. Bailey.

2439W    Significant overlap of genomic regions from extended high-risk autism families with evolutionarily accelerated regions in a species with highly unusual social behavior. H. Coon.

2440T    Assessment of shared genetic sex-differences across neuropsychiatric and behavioral traits. E.A. Khramtsova.

2441F    Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning and show genetic correlation with schizophrenia, Alzheimer’s disease, and type 2 diabetes. J. Lahti.

2442W    Population-scale analysis of copy number variation from whole genome sequencing. R.E. Handsaker.

2443T    3q29 deletion syndrome: Neuropsychiatric and behavioral phenotypes. R.M. Pollak.

2444F    In silico evidence for the contribution of expression dysregulation of 16p11.2 genes to schizophrenia. M. Vysotskiy.

2445W    Polygenic risk score improves prediction of alcohol-related morbidities. T.T.J. Kiiskinen.

2446T    Mutation screening in SHANK2 and SHANK3 genes in Brazilian individuals with autism spectrum disorder. D.B.A. Rosan.

2447F    Whole exome sequencing and linkage analysis in an extended pedigree segregating dyslexia. A.K. Adams.

2448W    Potential role of rare variants in the genetics of tardive dyskinesia. A. Alkelai.

2449T    A variant affecting levels of succinylcarnitine is associated with HLA-DQB1*06:02-negative essential hypersomnia. T. Miyagawa.

2450F    Schizophrenia-associated functional study of a POU3F2 regulated-TRIM8 signaling pathway in neural progenitor cells. C. Ding.

2451W    Whole genome sequencing in specific language impairment (SLI) exposes a shared genetic basis for language ability in autism spectrum disorders. J. Michaelson.

2452T    A genome-wide association study of completed suicide in Utah. J.S. Anderson.

2453F    Sex matters: Genome-wide association study reveals sex differences in nicotine metabolism biomarker genetics among African American but not European American smokers. M.J. Chenoweth.

2454W    A genome-wide study for interactions of Cytomegalovirus infection with genetic variation affecting age-of-onset of bipolar disorder. B.J. Coombes.

2455T    Genome-wide association study in an Australian population identifies FZD1 and ionotropic glutamate receptor pathway associated with schizophrenia. X. Liu.

2456F    Treatment remission in late-life depression: Post-GWAS in silico biological characterization of variants associated venlafaxine treatment. V.S. Marshe.

2457W    GRM8 association with response to antipsychotic iloperidone treatment. M. Polymeropoulos.

2458T    A genome-wide association study of emotion recognition and theory of mind. M.R. Woodbury-Smith.

2459F    Causal network relationships of multiple brain structure and behavior phenotypes based on BSNIP genetic association data. Y. Xia.

2460W    Predicting the genetic regulation of schizophrenia in African American populations. P.N. Fiorica.

2461T    Study of alcohol metabolizing genes (ADH1C and ALDH2) polymorphism in alcohol dependence. A case control study from India. B. Shankarappa.

2462F    Identification of risk genes in sub-threshold genome-wide association study loci in schizophrenia. R. Chen.

2463W    Copy-number variations in children with disorders of spoken and written language point to genes with prenatal cerebellar expression. B. Peter.

2464T    A new phenotyping algorithm for identifying cases of developmental language disorder in large-scale electronic health record systems. C.E. Walters.

2465F    Assessment of associations between mitochondrial DNA haplogroups and attention deficit and hyperactivity disorder in Korean children. I. W. Hwang.

2466W    Comparative prevalence of copy number variation in common childhood neurodevelopmental disorders. J.N. Kapalanga.

2467T    ABCC1 genetic variation and antiepileptic mood stabilizer pharmaco-resistance in bipolar disorder. J.M. Biernacka.

2468F    Common variants derived from PGC GWAS on schizophrenia have limited power to contribute to the treatment response or resistance to antipsychotic drugs. J. Li.

2469W    MR-PheWAS: Causal association between depression and multiple diseases outcome using depression genetic variants as instrument. A. Mulugeta.

2470T    Whole genome sequencing analysis identifies multiple candidate variants in a family with autism spectrum disorder. K. Calli.

2471F    Targeted sequencing of postsynaptic protein genes associated with schizophrenia: A role for multiple rare risk mutations in schizophrenia susceptibility. M. Cheng.

2472W    BrainSeq phase II: Schizophrenia-associated expression differences between the hippocampus and the dorsolateral prefrontal cortex. L. Collado Torres.

2473T    Genomic prediction of depression risk and resilience under stress. Y. Fang.

2474F    Metabotropic glutamate receptor association in attention deficit hyperactivity disorder. J.T. Glessner.

2475W    A burden of rare damaging coding variants in obsessive compulsive disorder. M. Halvorsen.

2476T    Visual masking deficits in schizophrenia: A view into the genetics of the disease through an endophenotype. F.A. Hodel.

2477F    Whole genome sequencing of 1,748 veteran twins to detect risk and measure rare variation associated with major depressive disorder. D. Hupalo.

2478W    Rare variant associations with cigarette smoking in the Trans-Omics for Precision Medicine Whole Genome Sequencing Program (TOPMed). S.K. Jang.

2479T    Association of HLA locus alleles with posttraumatic stress disorder. S. Katrinli.

2480F    Genome-wide association study of heritable psychological distress symptoms. S. Kim.

2481W    Dopamine perturbation of gene co-expression networks reveals differential response among schizophrenia subjects for translational machinery. M.Z. Kos.

2482T    Whole blood transcriptome analysis in bipolar disorder reveals strong lithium effect. C.E. Krebs.

2483F    Genetic associations with suicide attempt severity. D.F. Levey.

2484W    Severity of nausea and vomiting during pregnancy predicted by psychiatric and psychological traits. P.A. Lind.

2485T    Multi-omics analysis identifies mitochondrial pathways associated with anxiety-related behavior in mice and panic disorder patients. Z. Misiewicz.

2486F    Profile of the GCOP Study: A genome cohort on psychosocial traits in a dimensional perspective. T. Nishiyama.

2487W    Genetic variations in ghrelin (GHRL) and its receptor (GHSR) genes associated with alcohol use disorder. N. Ramoz.

2488T    Genetic associations between psychiatric disorder risk and phenotypic factors in UK Biobank. R. Shafee.

2489F    Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. J. Sul.

2490W    Genetic markers of human evolution are enriched in schizophrenia. B. Xiang.

2491T    Increased burden of rare protein-disrupting variants within neuron synaptic genes among 483 patients with bipolar 1 disorder. J. Xiaoming.

2492F    Meta-analysis of GWAS summary data identifies novel pathways associated with alcohol use disorder. H. Zhang.

2493W    Depression state-related biomarkers detected by whole-blood RNA sequencing. H. Lee.

2494T    Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia. S. Hackinger.

2495F    Regulatory Variants in PDE4D associate with psychotic and cognitive domains of major mental illness. V. Sinha.

2496W    Non-Alzheimer's aging brain, behavior and biomarkers in down syndrome and mouse. L. Dai.

2497T    Calculating the effects of autism risk gene variants on dysfunction of five major biological processes identifies clinically-meaningful information. O.J. Veatch.

2498F    Deep phenotyping revealed differential global developmental milestone deficits in siblings with15q11.2 microdeletion. K.M.F Uddin.

2499W    Mutation identified for of ADHD families in the US Hispanic population by whole exome sequencing. P. Acevedo.

2500T    Genome-wide association of word reading: Overlap with risk genes for neurodevelopmental disorders. K. Price.

2501F    Comparison of two phenotypes to identify SNPs associated with poor reading skills. H. Lancaster.

2502W    Characterization of the genetic architecture of intellectual disability in northern Finland. L.M. Urpa.

2503T    Polygenic risk scores distinguish speech and language subgroups in the Cleveland Family Study Cohort. P. Benchek.

2504F    Whole exome sequencing and functional validation in zebrafish identify novel genes for mitochondrial disorders. P. Arumugam.

2505W    Improved methods for molecular genetic understanding of mitochondrial diseases to facilitate clinical diagnostics. I. Barbosa.

2506T    Gene expression profiling of dorsal root ganglion in the mouse whole-body inducible Clec16a knockout model. M. Bakay.

2507F    A frequent variant in the Japanese population is acting as a quasi-Mendelian allele in rare retinal ciliopathies. M. Quinodoz.

2508W    Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort. X. Gao.

2509T    Combining information across multiple traits dramatically improves polygenic risk profiling for glaucoma. S. MacGregor.

2510F    Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships between among Eurasian populations. Y.H. Lin.

2511W    Ocular disease mechanisms elucidated by genetic regulation of gene expression in human retinal pigment epithelium. B. Liu.

2512T    Multiple new genetic regulatory effects in blood discovered for age-related macular degeneration. A.V. Segre.

2513F    Pervasive evidence of gene-environment interactions in genetic variants associated with refractive error. A. Pozarickij.

2514W    Persistent developmental stuttering: Genetic factors and therapy outcomes. C. Frigerio Domingues.

2515T    Three loci associated with risk of advanced age-related macular degeneration (AMD) also influence anti-VEGF treatment response. O. Garcia Rodriguez.

2516F    Identifying genes that underlie primary open-angle glaucoma using genetically determined gene expression. J. Hirbo.

2517W    Gene-based study of ocular quantitative traits in 14,346 patients from Geisinger. N.A. Restrepo.

2518T    PMEL missense variants are associated with pigment dispersion syndrome and pigmentary glaucoma. M.A. Walter.

2519F    Do carriers of “high penetrance” myocilin variants always get glaucoma? P. Gharahkhani.

2520W    Dissecting corneal layers from keratoconus cornea towards differential gene expression analysis. M. Gajecka.

2521T    Association between additive effects of genetic variants associated with primary open-angle glaucoma and age at diagnosis of glaucoma. F. Mabuchi.

2522F    Opsin gene probes accurately predict red-green color vision deficiencies derived from a web-based Ishihara plate color perception test. M.L. Multhaup.

2523W    The role of regulatory variants in FZD6-related gene network in nonsyndromic cleft lip and palate. L. Maili.

2524T    Minimizing facial dysmorphologies associated with Down syndrome by inhibition of DYRK1A related pathways. N. Martínez-Abadías.

2525F    Insights into the etiology of nonsyndromic orofacial clefting by WGS of Colombian trios. E.J. Leslie.

2526W    Structural variation in neural tube defects: Adding another layer to a complex genetic architecture. P. Wolujewicz.

2527T    Utility of early tongue reduction surgery in patients with Beckwith-Wiedemann syndrome. J.L. Cohen.

2528F    A population-based study of gene-alcohol interactions and orofacial cleft risk. A.L. Petrin.

2529W    WES and large-scale resequencing in cleft lip with/without cleft palate patients provides further evidence for a causative role of CDH1 and TRMO . N. Ishorst.

2530T    Integrated clinical and omics approach to rare diseases: Novel genes and oligogenic inheritance in holoprosencephaly. A. Kim.

2531F    Screening for 22q11.2 deletions and duplications in a large biobank data-set at a tertiary medical center uncovers new and undiagnosed cases. J.J. Connolly.

2532W    Development of CNV analysis method for newborn screening using Global Screening Array (GSA). M.-J. Kim.

2533T    Co-occurrence of recurrent copy number variations in a child with complex clinical phenotype. B. Melegh.

2534F    Chromosome 22q11 microdeletion: Potential modifiers of the cardiovascular phenotype found in heart development genes. B. Rebolledo-Jaramillo.

2535W    Novel candidate genes to nonsyndromic orofacial clefts revealed by exome and target gene sequencing. L.A. Brito.

2536T    Somatic mosaicism in the MAPK-ERK signaling pathway in sporadic cerebral arteriovenous malformations. S. Gao.

2537F    Understanding the genetic contribution to heterotaxy syndrome. A. Sridhar.

2538W    An open-label, phase 1/2 study of miransertib (ARQ 092), an oral pan-AKT inhibitor, in patients (pts) with PIK3CA-related Overgrowth Spectrum (PROS): Preliminary results. A. Bartuli.

2539T    An exome-wide association study identifies candidate susceptibility genes for congenital bbstructive uropathy. D.F. Ahram.

2540F    Rare inherited disorders that arise as a result of abrogating multiple systemic pathways. S. Mian.

2541W    Ascertainment of APOE ε4 homozygotes without Alzheimer disease for investigation of protective factors: The ASPREE Healthy Ageing Biobank. A.J. Huq.

2542T    Serum metabolites associate with cognition phenotypes among Bogalusa Heart Study participants. M. Shi.

2543F    The construction of risk prediction models for dementia with supervised principal component analysis using miRNA expression data. D. Shigemizu.

2544W    Understanding relationships among APOE4, BMI, Alzheimer's disease, and longevity, using Mendelian Randomization approach. S. Ukraintseva.

2545T    Exploiting population cohorts to interrogate genomic and transcriptomic factors associated with exceptional blood aging. E. Bader.

2546F    The Canadian longitudinal study on aging: Genome-wide genetic data on 9,900 participants available for your research! V. Forgetta.

2547W    10-year follow-up of the super-seniors study: Compression of morbidity and genetic factors in survivors. L. Tindale.

2548T    Longitudinal study of gene expression and regulation during a critical period of human aging. B. Balliu.

2549F    Whole-genome sequence variants associated dyspnea among current and former smokers from the COPDGene study. M.N. McDonald.

2550W    Quantifying biological age using multiple modalities. H. Tang.

2551T    No evidence of an association between mitochondrial DNA and accidental falls. E. Ryu.

2552F    The PhenX Toolkit: An update on a resource for geriatric research. L.A. Kilpatrick.

2553W    Varying effect of APOE alleles on extreme longevity in European ethnicities. A. Gurinovich.

2554T    Comparison of multiple omics aging clocks. E. Macdonald-Dunlop.

2555F    Exome variants associated with healthy aging: Findings from the Long Life Family Study (LLFS). B. Vardarajan.

2556W    Decreased burden of pathogenic variants in a healthy elderly cohort. A. Telenti.

2557T    Associations between a polygenic score for leukocyte telomere length and telomere length measures from multiple human tissues. M.B. Chernoff.

2558F    Genetically predicted telomere length and aging-related physical and cognitive traits among the UK Biobank participants. K. Demanelis.

2559W    Novel genetic loci identified for telomere length leveraging 50,000 whole genome sequences in the trans-omics for precision medicine (TOPMed) project. M.A. Taub.

2560T    The curious parental age and genetic effects on newborn telomere length. W. Wong.

2561F    APOE is associated with declining BMI in older adults. C.R. Bauer.

2562W    Interaction analyses of genes and environmental exposures contributing to childhood wheeze in the Canadian Healthy Infant Longitudinal Development (CHILD) study. J. Choi.

2563T    Using whole genome sequence data from the Barbados asthma genetics study (BAGS) to elucidate the role of HLA in allergic disease. A. Shetty.

2564F    Analysis of deep whole genome sequencing data from African American asthmatics. P.M.A. Sleiman.

2565W    Gene expression responses at the 17q12-21 asthma locus to microbial exposures in nasal epithelial cells. M.M. Soliai.

2566T    A large-scale genome-wide meta-analysis of gene-by-sex interactions on time-to-asthma onset identified sex-specific risk loci. R. Veil.

2567F    A cell model of gene-environment interactions at the 17q21 asthma locus. C.W. Washington.

2568W    De novo indels within introns contribute to ASD incidence. A. Munoz.

2569T    Genome-wide linkage study meta-analysis of male sexual orientation. A.R. Sanders.

2570F    Contribution of transposable elements to disease and complex trait heritability. F. Hormozdiari.

2571W    The enhanced GWAS catalog: Catalysing discovery with the new REST API and improved web interface. D. Suveges.

2572T    Evaluation of genetic factors for morphine requirement prediction. J. Li.

2573F    ATG16L1 and ATG12 are involved in the pathogenesis of gastric mucosal atrophy in Japanese patients. K. Obata.

2574W    The Ophthatome™ Knowledgebase : A curated knowledgebase of over 500,000 ocular disease phenotypic records with ability to build complex queries to enable analyses of disease progression, prognosis, genotype-phenotype correlation and drug development. A. Das.

2575T    Disease individuals with bi-allelic recessive mutations, also show secondary-variant burden in disease-relevant biological modules. M. Kousi.

2576F    Are there genetic variants to explain the phenomenon of donor cell survival following blood transfusion? R. Hirani.

2577W    Clinical utility of genotype screening in unselected individuals for personalized medicine. K.P. Lubieniecki.

2578T    Accurate prediction of multiple pigmentation phenotypes. B. Alipanahi.

2579F    Itchy and scratchy: Polygenic risk scores predict self-reported mosquito attraction and bite response. J.R. Ashenhurst.

2580W    Enrichment of deleterious variation on down-regulated haplotypes due to the regulation-dependent penetrance of coding variants. R. Brown.

2581T    Genome-wide association studies of human facial width-to-height ratios. M. Lee.

2582F    Low-frequency genetic variants contribute to human craniofacial morphology. D. Liu.

2583W    The role of glycaemic, lipid, obesity and blood pressure risk factors as mediators of the effect of height on coronary artery disease and type 2 diabetes mellitus: A Mendelian randomisation study. E. Marouli.

2584T    DNA methylation in nasal epithelial cells and sensitization to aeroallergens. A. Morin.

2585F    A characterization of eQTLs directions in complex traits inspired by the omnigenic model. O. Naret.

2586W    Genetic predisposition for myalgic encephalomyelitis/chronic fatigue syndrome: Pilot study. L. Nathanson.

2587T    Genome-wide association study identifies gene polymorphisms associated with the analgesic effect of fentanyl in the preoperative cold pressor-induced pain test. D. Nishizawa.

2588F    Multiple signals at known loci revealed by analysis of C-reactive protein levels in the Trans-Omics for Precision Medicine (TOPMed) whole genome sequencing data. L.M. Raffield.

2589W    The impact of genotype imputation on the statistical power of rare variant association tests. D.M.H. Tong.

2590T    Genetic sex differences are generated by embryonic developmental mechanisms. M. Traglia.

2591F    The “avocado gene” and nutrigenetics: New evidence for olfaction’s role in food preferences and genetic correlations with health outcomes. J.F. Wilson.

2592W    Re-examining high altitude adaptation (HAA) associated genes in tibetan populations with a focus on the evolutionary history of EPAS1 gene. X. Zhang.

2593T    A genome-wide analysis in consanguineous families reveals chromosomal loci in specific language impairment (SLI). M.H. Raza.

2594F    Programmable neclease-based integration into novel extragenic genomic safe harbor identifies from Korean-population based CNV analysis. S. Moon.

2595W    Taiwan Biobank: An open access resource for conducting the biomedical research. H. Chu.

2596T    Association analyses of common SNPs and indels from whole genome sequencing of orofacial cleft (OFC) trios of European ancestry. N. Mukhopadhyay.

2597F    Finding subgroups of Chronic Obstructive Pulmonary Disease (COPD) in a diverse population using clinical data from Electronic Health Records. A.O. Basile.

2598W    Gene expression and splicing QTLs inform the biology of complex traits. R. Bonazzola.

2599T    Pedigree-focused linkage analysis of specific language impairment reveals multiple suggestive loci. E.M. Andres.

2600F    Gene-smoking interaction in Fuchs endothelial corneal dystrophy: A GWAS analysis. Y.J. Li.

2601W    Circadian misalignment accentuates genetic risk to obesity. A.R. Wood.

2602T    Identifying disease subtypes from genotype data. H. Aschard.

2603F    Identifying genetic architecture of facial morphology in Uyghurs. H. Chen.

2604W    New genetic loci associated with permanent tooth eruption. F. Geller.

2605T    GWAS meta-analysis highlights the hypothalamic–pituitary–gonadal axis (HPG axis) in the genetic regulation of menstrual cycle length. T. Laisk.

2606F    Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone. A. Matana.

2607W    Genetic analyses of Fuchs endothelial corneal dystrophy in a Japanese population. M. Nakano.

2608T    Effects of HLA class II genotypes on a response to HB vaccine in Japanese population. N. Nishida.

2609F    A whole-genome study identifies genetic risk factors for systemic hypertension in high altitude Indian population. K. Sharma.

2610W    Novel susceptibility loci for tanning ability in a Japanese population identified by genome-wide association study from ToMMo cohort study. K. Shido.

2611T    Genetic basis of falling risk susceptibility. K. Trajanoska.

2612F    A genome-wide association study identifies uric acid-related genetic variants in the Taiwanese population. J. Wei.

2613W    Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits. Y. Wu.

2614T    Replicated association of CYP4F2 variant with change in plasma vitamin E level after supplementation. J. Xu.

2615F    Identifying novel genetic defects for radiation hypersensitive phenotypes through Next-Gen sequencing. M. Gupta.

2616W    Gene expression analyses in thrombotic storm indicate dysregulation of coagulation and extracellular matrix pathways. K. Nuytemans.

2617T    Inflammation derived molecular pathogenesis of keratoconus: An insight into disease onset. M. Azam.

2618F    Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood. T. Qi.

2619W    MR-pheWAS with stratification and interaction: Searching for the causal effects of smoking heaviness. L.A.C. Millard.

2620T    Lack of associations of human genetic variations with gut microbiome diversity in healthy individuals. P. Scepanovic.

2621F    Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease. N.Y.P. Budi.

2622W    Potential role of STAT4 genetic variation in treatment decision-making for hepatitis B e antigen-positive chronic hepatitis B. H. Chen.

2623T    Next-generation sequencing (NGS) based pharmacogenomics panel testing revealed CYP2C9 as a critical gene for warfarin dosing in Taiwan. Y.C. Chen.

2624F    Genetic and transcriptomic variation in human hepatic pharmacogenes. K.G. Claw.

2625W    Are drug targets with genetic support twice as likely to be approved? – Revised estimates of the impact of genetic support for drug mechanisms on the probability of eventual drug approval. J.F. Degner.

2626T    A missense change in CFB is a potential predictor of sustained virologic response to peginterferon alfa therapy of HBeAg-positive chronic hepatitis B patients. D. Jiang.

2627F    High frequency of PM phenotype in pharmacogenomic actionable genes: Results support the need for pre-emptive genotyping across global populations to improve therapy. D.K. Sanghera.

2628W    Pharmacogenomic-associated medication prescribing trends in the Medicare and Medicaid population: Data-driven pharmacogenomic subpanel design. E.R. Scott.

2629T    Phenotypic and pharmacogenomics identification of intraoperative phenylephrine responses using electronic health records. Y. Zhang.

2630F    Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. A.V. Khera.

2631W    A genome-wide association meta-analysis of the nicotine metabolite ratio and five other smoking related traits in smokers of European descent. J. Buchwald.

2632T    A multi-trait GWAS (MTAG) for puberty timing in men. F.R. Day.

2633F    A genetic atlas for reproductive health and disease in UK Biobank. B. Hollis.

2634W    P2RX7 functional variants in localized aggressive periodontitis. T. Harris.

2635T    Genome-wide association study reveals sex-specific genetic architecture of facial attractiveness. B. Hu.

2636F    Association of the NTCP S267F variant disabling of HBV receptor function with a reduced host risk to HBV infection and disease progression. P. An.

2637W    Genotype imputation of structural polymorphism with whole genome sequencing based haplotypes reference panel. Y. Kawai.

2638T    Imputing the effects of genetic variation on mRNA splicing in rare human samples. A. Shah.

2639F    Mosaic loss of chromosome Y (LOY) in leukocytes helps explain why men live shorter lives. L.A. Forsberg.

2640W    Investigating the impact of smoking on mental and physical health outcomes using genome-wide data. C. Chen.

2641T    Visualization of UK Biobank genetic association results in PheWeb. P. VandeHaar.

2642F    Does the CPT1A p.P479L variant increase risk for early neonatal hypoglycemia? S. Collins*.

2643W    The common polymorphism of the KISS1 gene promoter associated with endometriosis in Russian population. T. Ivashchenko.

2644T    Genetic association of ER stress sensors IRE1 and XBP1 with cranial vault shape and nasal shape in humans. S. Weinberg.

2645F    The genetic basis of social effects: Genome-wide association study of social genetic effects on 170 phenotypes in laboratory mice. A. Baud.

2646W    Deciphering sex-specific genetic architectures using Bayesian methods. S.A. Funkhouser.

2647T    Meta-analysis of global-to-local genome-mapping on modular facial shape reveals 75 associated loci. K. Indencleef.

2648F    The landscape of pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases. D.M. Jordan.

2649W    Detailed annotation of genetic signals associated with human nose morphology. J. Roosenboom.

2650T    Locally dependent screening: Strategies for developing an accurate genomic predictor using big data . M. Sun.

2651F    Inbreeding effects on damaging homozygote loads in gene-sets associated with 543 complex phenotypes. A. Blant.

2652W    Improving SNP-based gene expression prediction. D. Zhou.

2653T    Discovering genetically correlated variants in genome-wide association studies with multiple traits. K. Collins.

2654F    The search for quantitative iris pigmentation markers using automation in genome-wide association studies: From phenotype to genotype. R. Eller.

2655W    GWAS of 92 neurology-focused plasma proteins reveals over one hundred novel loci. B.P. Prins.

2656T    Alu variants can affect gene expression or splicing and contribute to disease risk. L.M. Payer.

2657F    The NHGRI genome sequencing program. T. Matise.

2658W    Large scale implementation of clinical preemptive pharmacogenomic testing: The Mayo-Baylor RIGHT10K project. S.E. Scherer.

2659T    Improving drug discovery with PheWAS across >400,000 UK Biobank participants. E. Wong.

2660F    The influence of population structure on complex trait architecture: Insights from the PAGE study. G.L. Wojcik.

2661W    Analysis of densely imputed UK Biobank genetic data reveals disease-associated rare loss of function variation. S.A. Gagliano.

2662T    Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen Program. K. Kanchan.

2663F    Overexpression of RUNX2 in mesenchymal stem cells derived from fused cranial sutures of individuals with metopic non-syndromic craniosynostosis. K. Bala.

2664W    USF1 modulates chronotype and consolidates sleep. H.M. Ollila.


Evolution and Population Genetics

 

2665T    Natural selection at the Adenylate cyclase 3 (ADCY3) gene. I. Yoshiuchi.

2666F    ChocoGen: Genetic ancestry and health in the Colombian Pacific. I.K. Jordan.

2667W    Cross-altitude analysis suggests a turning point at the elevation of 4,500m for polycythemia prevalence in Tibetans. H. Zhang.

2668T    High throughput pipeline for HLA typing identifies >800 novel alleles in populations from Africa. T. Porter.

2669F    Different selected mechanisms attenuated the inhibitory interaction of KIR2DL1 with C2+ HLA-C in two indigenous human populations in Southern Africa. N. Nemat-Gorgani.

2670W    Ancient and modern admixture enhanced the interactions of HLA class I with killer cell immunoglobulin-like receptors in East Asian populations. P.J. Norman.

2671T    VarCount: Automated in trans variant calling reveals novel epilepsy genes and selection patterns between populations. A. Cox.

2672F    Improved pathogenic variant localization using a hierarchical model of sub-regional intolerance. T.J. Hayeck.

2673W    Functional validation of missense variants in VMAT1 reveals evolutionary trajectory of human psychology. D. Sato.

2674T    Understanding the hidden complexity of Latin American population isolates. J. Mooney.

2675F    Ancient DNA sequencing shows population heterogeneity of Neolithic Central China. C. Li.

2676W    Unique and conserved gene pool provides higher risk of rare genetic disorders in populations of Jammu and Kashmir-India. S. Sharma.

2677T    Reconstructing the peopling of old world south Asia: From modern to ancient genomes. N. Rai.

2678F    Reconstructing the health landscape of a medieval hospital cemetery: A holistic interdisciplinary approach. C.L. Scheib.

2679W    Multi-omics approach to elucidating the C57BL mouse substrains. Y. Ren.

2680T    Visualization of population structure history with Scale-Invariant Geometric Data Analysis (SIGDA). M. Robinson.

2681F    Detecting polygenic signals and molecular mechanisms of adaptation to local environments. F. Luca.

2682W    Self-reported race/ethnicity as a function of genetic ancestry in the Kaiser Permanente (KP) Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. Y. Banda.

2683T    Study of Touch DNA in simulated situations with computer keyboards for forensic purposes. F.T. Goncalves.

2684F    Systematic detection of conserved and divergent brain proteins during human evolution. G. Dumas.

2685W    Feeding behaviors determine acidic chitinase mRNA levels in mammalian and poultry stomachs. F. Oyama.

2686T    New insights into the genetic basis and evolutionary history of lactase persistence in Africa. A. Ranciaro.

2687F    Evolutionarily conserved genes regulating hypoxia tolerance. D. Zhou.

2688W    Detecting adaptive introgression in human populations without knowledge of the archaic samples. A. Akbari.

2689T    De novo mutation rates from 1465 ancestrally diverse trios highlight rapid founder population changes and inter-ancestral conservation in mutational processes. M.D. Kessler.

2690F    Human prehistoric demography revealed by polymorphic pattern of CpG transitions. X. Liu.

2691W    Full genome sequencing of Native American ancestry individuals reveals adaptation to high altitude in the Andes. M. Muzzio.

2692T    Distribution of local ancestry and evidence of positive selection in Brazilian individuals. R. Secolin.

2693F    Genetic differentiation and population structure of five endogamous groups of Punjab (North-West India): An analysis of Alu insertion and restriction site polymorphisms. G. Singh.

2694W    Mutation rate estimation with three-way identity by descent. X. Tian.

2695T    Identifying the genetic and environmental determinants of gene expression variation in Africans. D.E. Kelly.

2696F    Genomes of 175 Mongolian individuals reveal population specific genetic architecture and genetic relationship with other human populations. X. Guo.

2697W    Genetic missense variants at the EGLN1 locus associated with high-altitude adaptation in Tibetans are rare in Andeans. E.S. Lawrence.

2698T    Tankyrase: A promising target to investigate high altitude adaptation/maladaptation. M. Miglani.

2699F    Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations. S. Gazal.

2700W    Heritability of language and associations with population demography. N. Telis.

2701T    Demographic inference with sequential Monte Carlo methods reveals large European back-migration in the Late Pleistocene. C.B. Cole.

2702F    Host genetic control of the microbiome in wild primates. R. Blekhman.

2703W    Patterns of positive selection inferred across the Pacific. S. Kaewert.

2704T    A pharmacogenomic variation database of Chinese population based on whole genome sequencing. J. Guo.

2705F    The evolution of TLR7 and TLR8 in yellow fever virus endemic areas. N. Torosin.

2706W    The genetic structure and demographic history of Mexicans of African descent. M.C. Ávila-Arcos.

2707T    Reconstructing the history of the Native American populations from Brazilian coast. T. Hünemeier.

2708F    How genetic disease risks can be misestimated across global populations. M. Kim.

2709W    The impact of genetic admixture and natural selection on driving population differences in East Asia. S. Xu.

2710T    Fine-scale population structure of European Land’s end: Genetics of North Western France and the Loire River. C. Dina.

2711F    Ancestry specific methods for reconstructing human settlement across the Pacific. A. Ioannidis.

2712W    An initiative for genetic data collection from underrepresented countries and populations. K.F. McManus.

2713T    Identification and characterization of AluYRa1 exonization event in cynomolgus macaque genome. H. Cho.

2714F    Tracing changes in gene regulation during human evolution by imputing ancient gene expression. L.L. Colbran.

2715W    Genomics of ancient Brazilian populations. D.I. Cruz Dávalos.

2716T    Mount Lebanon provides an opportunity to study DNA from the ancient Near East. M. Haber.

2717F    Ancient DNAs from China and the origin of the Neolithic Chinese super-grandfather Y haplotypes. S. Huang.

2718W    Tracing the evolution of pigmentation-associated variants in Europe. D. Ju.

2719T    Investigating Sardinian population history with ancient DNA. J.H. Marcus.

2720F    Reversing the bottleneck: Neanderthals as a genetic reservoir for functional alleles lost in the Eurasian migration out of Africa. D.C. Rinker.

2721W    Ancient DNA reveals signatures of selection on disease-associated variants from GWAS. C.N. Simonti.

2722T    Detecting tracts of introgressed Neanderthal ancestry in genomic sequence data of modern humans. M. Steinruecken.

2723F    LILRB1/ILT2 polymorphisms detected in Brazil reveal a conserved locus with polymorphism frequencies influenced by ancestry. E.C. Castelli.

2724W    Defining trait core genes with networks. B.E. Graham.

2725T    The identification of new protein methylation site acquisition in conserved proteins in human lineage. D. S. Kim.

2726F    Genome-wide identification and characterization of non-coding human specific deletions. J. Xue.

2727W    The orangutan has all the variants you need: Monitoring specificity and sensitivity of diagnostic next-generation-sequencing by establishing orangutan DNA as reference standard. A. Rump.

2728T    Prediction of eye and hair pigmentation phenotypes using the HIrisPlex system in a Brazilian admixed population sample. C.T. Mendes-Junior.

2729F    Inference and visualization of geographic patterns of variation for variant sets. A. Biddanda.

2730W    Gene-level intolerance to copy number variation in UK Biobank reveals a cohort-level survival bias and novel disease associations. M. Aguirre.

2731T    Structural variation of the human population: Characterizing and sequence-resolving variation to identify common alleles, correct reference errors, and improve short-read analysis. P. Audano.

2732F    A population genetics approach to discover genome-wide saturation of structural variants from 22,600 human genomes. L.F. Paulin.

2733W    Quantification of selective pressures on human pigmentation between populations and over epochs. X. Huang.

2734T    Facial masculinity does not appear to be a condition-dependent male ornament and does not reflect MHC heterozygosity in humans. J.D. White.

2735F    A novel, scalable, and powerful IBD-based method to detect archaic hominin sequence in modern humans. L. Chen.

2736W    Localizing and classifying adaptive targets with trend filtered regression. M.R. Mughal.

2737T    The Oceanian Genome Variation Project. C.D. Quinto-Cortés.

2738F    Detecting signatures of adaptive positive selection from high–density genotyping data in the Lithuanian population. A. Urnikyte.

2739W    Archaic aeserts: Interpreting human genomic regions depleted of archaic hominin ancestry. A.B. Wolf.

2740T    Whole genome sequencing reveals admixture history of Singapore Peranakan Chinese. D. Wu.

2741F    Landscape of multi-nucleotide variants across 123,136 human exomes. Q. Wang.

2742W    Population-specificity of eQTL effect sizes across tissues. S. Kasela.

2743T    Ethnic specific reference genome may salvage "unmapped” reads to the global reference of GRCh38. J. Kim.

2744F    L1 retrotransposition machinery is maintained via the live-and-die model of evolution in primate genomes. P. Liang.

2745W    A complete characterization of the HLA-A haplotype structure in a Brazilian population sample. T.H.A. Lima.

2746T    Black South African Bantu-speakers(1) show evidence of significant population structure with implications for biomedical research: H3Africa SNP array data. M. Ramsay.

2747F    Initiatives to increase the diversity of populations represented in genetics research. A.J. Shastri.

2748W    HLA-C diversity and natural selection profile surveyed in a Brazilian population sample. A.S. Souza.

2749T    Genetic variants in ST6GAL1 gene are associated with thyroglobulin plasma level in healthy individuals. T. Zemunik.

2750F    Systematic comparative genomic analysis reveals differential DNA transposition as a significant mechanism in primate evolution. W. Tang.

2751W    Whole-genome based linkage disequilibrium maps in sub-Saharan African population: Functional clustering and relationship to disease. R. Jabal-Ameli Forooshani.

2752T    A map of constrained coding regions in the human genome. A. Quinlan.

2753F    Bayesian factor analysis for inference of population structure and polygenic selection. A. Kousathanas.

2754W    A standardized statistic improves power to detect long-term balancing selection. K.M. Siewert.

2755T    Population pharmacogenomics for precision public health in Colombia. E.T. Norris.

2756F    A new paradigm for pharmacogenomic discoveries: Capturing drug response during surgery. S. Wenric.

2757W    Genetic substructure in the State of Jammu and Kashmir, India: Insights from two populations based on autosomal, Y-chromosomal and mitochondrial DNA analyses. M. Singh.

2758T    Examining highly differentiated genotypes in the Tangier Island genetic study. T.M. Brunetti.

2759F    Detecting fine scale population structure, migration and recent population expansion in the Netherlands. R.P. Byrne.

2760W    Detection of shared balancing selection in the absence of trans-species polymorphism. X. Cheng.

2761T    A comprehensive map of genetic variation in the world’s largest ethnic group - Han Chinese. C. Chiang.

2762F    Transcriptome and chromatin accessibility in diverse African populations enables fine-mapping GWAS. M.K. DeGorter.

2763W    A statistical model for reference-free inference of archaic local ancestry. A. Durvasula.

2764T    Population genetics and historical demography of North American immigrant communities. D. Garrigan.

2765F    Fast and accurate identification of diploid IBD segments in large biobank cohorts. X. Geng.

2766W    Genetic ancestry and population structure of Scotland and its surrounding isles. E.H. Gilbert.

2767T    Population structure and demographic history of Ethiopian hunter-gatherers. S. Gopalan.

2768F    Identifying and classifying shared selective sweeps from multilocus data. A.M. Harris.

2769W    Mapping African ancestry among African Americans. C.C. Jones.

2770T    From genome-wide to world-wide: Shared genetic etiology and ancestry among major complex diseases. T.B. Mersha.

2771F    Building human reference genomes for Africa. M.O. Pollard.

2772W    High-throughput local ancestry inference reveals fine-scale population history. A. Sedghifar.

2773T    The effect of consanguinity on between-individual identity-by-descent sharing. A. Severson.

2774F    Population diversity of Austro-Asiatic speakers: Complex substructure and intricate layered network of dispersals. D. Tagore.

2775W    Differences in polygenic architecture between multiple ethnic human populations revealed by pathway and epistasis analysis. M.C. Turchin.

2776T    FST never satisfies the triangle inequality for biallelic markers with distinct allele frequencies. I. Arbisser.

2777F    Cryptic Native American ancestry recapitulates population‐specific migration and settlement of the continental United States. A.B. Conley.

2778W    The spatial patterns of genetic diversity in the United States. C.L. Dai.

2779T    Inference of population structure from ancient DNA. T.A. Joseph.

2780F    Whole-exome sequencing of 1,050 Turkish individuals reveals population structure and genetic variation. X. Song.

2781W    The role of recent demography in shaping patterns of genetic variation in US Hispanic/Latino populations. M.L. Spear.

2782T    The ChileGenomico Project creates a public resource to test association between socioeconomic and epidemiologic variation among communes of Chile and ancestry. R.A. Verdugo.

2783F    Interpreting variants of uncertain significance using common variation in non-human primates. H. Gao.

2784W    Investigating race, ethnicity, and ancestry in clinical genomics. A.B. Popejoy.

2785T    Available protein 3D structures do not reflect human genetic and functional diversity. G. Sliwoski.

2786F    Mining patterns of singleton and loss-of-function variants in deeply sequenced genomes. D. Taliun.


Molecular and Cytogenetic Diagnostics

 

2787W    The SureMASTR BRCA Screen assay combined with MASTR Reporter analysis is an accurate and precise workflow for SNV, indel and CNV detection in blood- and FFPE-derived DNA. K. Bettens.

2788T    Molecular genetics study of hereditary colorectal cancer in Algerian patients. F. Cherbal.

2789F    Comparison of enzymatic fragmentation vs sonication for the production of cfDNA reference standards for liquid biopsy assay validation. H. Child.

2790W    The utilization of public population databases for somatic variant classification. J.P. De La O.

2791T    Pulation screening for BRCA1 and BRCA2 mutations: Results from a feasibility study within a military treatment facility. R.E. Ellsworth.

2792F    Searching for variants by whole-exome sequencing in Brazilian women at high-risk for hereditary breast/ovarian cancers, negative for mutations in BRCA1/BRCA2 genes. P.S. Felicio.

2793W    Circulating tumor DNA methylation haplotypes in plasma can accurately detect early-stage colorectal cancer and advanced adenomas in a single blinded study. J. Gole.

2794T    Multi-gene panel testing 54 breast cancer predisposition genes. C. Hata.

2795F    An analysis of tumor mutation burden in colorectal cancer has revealed signature damage patterns associated with multiple cancer types. J. Huang.

2796W    Clinical application of the OncoKidsSM next generation sequencing platform for detection of germline and somatic alterations in pediatric brain tumors. J. Ji.

2797T    The Veterans Health Administration's Research Precision Oncology Project: Integrating real-world data into a learning health system. B.R. Johnson.

2798F    Clinicopathological and molecular analysis of 45 cases of mucinous breast cancer. SY. Kang.

2799W    BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea. D. Kim.

2800T    An amplicon panel for BRCA sequencing bundled with a user-friendly bioinformatics solution. K. Kushiro.

2801F    Validation of the GeneReader NGS system for BRCA 1 and BRCA 2 genotyping. E. Lee.

2802W    Optimization and calidation of the ACMG/AMP variant interpretation guidelines recommended by ClinGen's Myeloid Malignancy Expert Panel. X. Luo.

2803T    Multi-gene testing of an Indian ovarian cancer cohort: Prevalence of BRCA1/2 and non-BRCA mutations. A.U. Mannan.

2804F    Pathogenic germline variants in a pediatric cancer cohort and identification of new candidate cancer predisposition genes. K.E. Miller.

2805W    Cancer mutations in healthy admixed elderly: Can we improve pathogenicity interpretation? M.S. Naslavsky.

2806T    Novel GREM1 enhancer region duplications and associated phenotypes. R. O'Connor.

2807F    Mutation spectrum identified by germline testing of hereditary cancers from 500 healthy Chinese individuals using an accessible 30-gene panel following ACMG guidelines. D. Siu.

2808W    Technical validation of EFIRM, a sensitive, plate-based, rapid, inexpensive, liquid biopsy platform for common EGFR variants in non small cell lung cancer. C.M. Strom.

2809T    Association of lower expression of beta-catenin with pancreatic carcinogenesis and poorer prognosis. L. Suo.

2810F    Development of SureSelect sequencing panels and algorithms to simultaneously detect mutations, copy number variations and DNA rearrangements in FFPE specimens. H. Tao.

2811W    Molecular cytogenetic characterization of a case of a mixed myelodysplastic/myeloproliferative neoplasm: Chronic myelomonocytic leukemia-1 (CMML-1) with an abnormal karyotype with an apparent monosomy 7 resulting in rearrangements involving chromosomes 7 and 21. C.A. Tirado.

2812T    Reference standards for the validation of myeloid sequencing assays. M. Wang.

2813F    Improving patient outcomes: Demonstrating competence in BRCA1/BRCA2 variant classification for PARPi treatment stratification. N. Wolstenholme.

2814W    Mutation analyses of four Japanese pedigrees with Hereditary Pheochromocytoma/Paraganglioma Syndrome (HPPS): Identification of a novel SDHB IVS2-2A>C mutation in two unrelated pedigrees. M. Yamanaka.

2815T    Genetic features in children with acute lymphoblastic leukemia. L.T. An.

2816F    Recurrent independent cytogenetic characteristics of myelodysplastic syndromes (MDS) and associated IPSS-R risk. BaniB. Ganguly.

2817W    Cytogenomic characterization of B-Acute Lymphoblastic Leukemia (ALL) with intrachromosomal Amplification of Chromosome 21 (iAMP21) reveals co-existing cytogenetic manifestations and outlines driver alterations that play a role in leukemogenesis. R. Garcia.

2818T    Genetic heterogeneity in pediatric alveolar rhabdomyosarcoma tumors. K. Gleditsch.

2819F    Translocation(3;8)(q26.2;q24) in myeloid neoplasm: Report of two new cases and review of the literature. J. Liu.

2820W    Molecular cytogenetic characterization of Rh30 and Rh4 alveolar rhabdomyosarcoma (ARMS) cell lines. J.A. Peñas.

2821T    T(3;8)(q26.2;q24) is commonly associated with therapy-related myeloid neoplasms and involves MECOM/MYC rearrangement. G. Tang.

2822F    ETV6 deletion as a potential biomarker for blastic plasmacytoid dendritic cell neoplasm. Z. Tang.

2823W    Duplication of the band q21q27 on the long arm of chromosome 3 : A rare cytogenetic event in B-Chronic Lymphocytic Leukemia (B-CLL). D. Zhao.

2824T    Mosaic Epigenetic Susceptibility Syndrome (MESS) to Wilms tumor. E. Fiala.

2825F    Assessment of BAP1 germline alterations in uveal melanoma. R. Pilarski.

2826W    Differential association of Lynch syndrome genes with colorectal and breast cancer. A.D. Zimmer.

2827T    Genotyping ccfDNA in cerebrospinal fluid as a new source of liquid biopsy. O. Sonmezler.

2828F    Clinical relevance of circulating tumor DNA assessed through amplicon-based next-generation sequencing in cancer. H. Zembutsu.

2829W    Rapid detection of genomic rearrangements and gene fusions in human leukemias using Oxford nanopore sequencing. P. Zuzarte.

2830T    Validation of a targeted massively parallel sequencing panel for the clinical diagnostic testing of fusion genes associated with hematological malignancies. M.R. Avenarius.

2831F    Comprehensive evaluation of data quality in public population databases guides pathogenic allele frequency threshold determination for variant classification downgrades in hereditary cancer genes. M. Jones.

2832W    Benefits in the surveillance of the copy number of RUNX1 in childhood B-ALL patients from targeted gene sequencing. M. Wang.

2833T    Cis-acting genetic causes of MLH1 promoter methylation in Lynch syndrome patients with secondary constitutional epimutations. J. Leclerc.

2834F    Development of a novel, rapid, ultra-sensitive and intraoperative IDH mutation detection method. T. Avsar.

2835W    Validation of an amplicon-based hematopoietic gene panel to characterize aberrant clonal expansions/clonal hematopoiesis. D. Castillo.

2836T    Next generation sequencing of hereditary paraganglioma-pheochromocytoma syndrome. W. Lee.

2837F    Performance of an NGS multi-gene panel for detection of hotspot variants in colorectal cancer patients. I. Boga.

2838W    Germline reporting in the National Cancer Institute - Children’s Oncology Group (NCI-COG) Pediatric MATCH National Precision Oncology Trial. S.E. Plon.

2839T    NEBNext Direct Custom Ready Panels overcome challenges associated with targeted re-sequencing. A. Barry.

2840F    Systematic “minor genes” testing in inherited cardiac diseases: Friend or foe? V. Novelli.

2841W    Enabling high quality hypertrophic cardiomyopathy genetic testing using multiplexed patient-like reference material. Z.C. Deans.

2842T    A targeted enrichment sequencing assay for inherited cardiac condition genes. K. Patel.

2843F    Clinical characterization of hypertrophic cardiomyopathy caused by the ancestral mutation p.Q1233* in the MYBPC3 gene. M. Polyak.

2844W    Targeted gene pannel screening in sudden cardiac death: Challenges and utilities, to be or not to be? S.G. Temel.

2845T    Molecular dissection of the dilated cardiomyopathy in pediatric patients in Russia. E. Zaklyazminskaya.

2846F    Validation of targeted next-generation sequencing panel for thoracic aortic aneurysms and aortic dissections. C. Seol.

2847W    Identification of mosaic mutations in two Chinese families with MFS/LDS. Y.Guo. Zhu.

2848T    The importance of gene-based knowledge in variant classification: An analysis of FBN1 missense variant classifications in ClinVar. L.M. Baudhuin.

2849F    Molecular spectrum of PAH gene mutations in the Aegean region of Turkey: Identification of four novel mutations. F. Ozkinay.

2850W    IGF1R variants in patients with growth impairment: Four novel variants and genotype-phenotype correlations. L. Yang.

2851T    Screening for mutations in 14 kinds of MODY genes in patients with MODY in Japanese by next generation sequencing. N. Iwasaki.

2852F    Personalized medicine in diabetes: Unraveling the disease casualty of HNF1B gene coding variants of “unknown clinical significance” in two large Norwegian diabetes registries. B.B. Johansson.

2853W    Prevalence of significant genetic variants in glycogen storage disease via custom NGS panel in a single center hospital based study. A. Bisgin.

2854T    Common mutation and hot-spot region of ATP7B gene in Vietnamese children with Wilson disease. H.M.T. Nguyen.

2855F    Genetic testing for patients with exercise intolerance, rhabdomyolysis, or a suspected metabolic myopathy. M. Kyriss.

2856W    Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. C. Proukakis.

2857T    Innate immune gene expression signature in rheumatoid arthritis revealed the key role of TLR8 and IL1RN in discrimination of active and inactive disease. A. Petrackova.

2858F    Comprehensive profiling of chemokine receptors in peripheral blood mononuclear cells obtained in patients with chronic lymphocytic leukemia. E. Kriegova.

2859W    Retrospective analysis of a patient cohort referred for carrier testing for Alpha Thalassemia. P.H. Fernandes.

2860T    Detection of alpha-thalassemia common large deletions by next generation sequencing. SH. Rosenthal.

2861F    Clonal cell proliferation in paroxysmal nocturnal hemoglobinuria: Evaluation of PIGA mutations and T-cell receptor clonality. M. Kim.

2862W    Expanded genetic testing for primary immunodeficiencies: Findings from a 207-gene next-generation sequencing panel. B. Johnson.

2863T    HLA typing using capture-based next-generation sequencing. S.K. Lai.

2864F    A Blau syndrome family: Mutated NOD2 allele transmitted from the father with somatic and germline mosaicism. Y. Lin.

2865W    Prenatal diagnosis of alpha thalassemia in Northern Vietnam. N.T.T. Nhung.

2866T    The CFTR MASTR v2 assay combined with MASTR reporter analysis is a fast and precise research solution for SNV, indel, CNV and (TG)m(T)n locus detection. A. Rotthier.

2867F    Differential cytokine pattern associated with a osteolysis predisposing allele TNF-238*A in patients with/without severe osteolysis around total hip arthroplasty. R. Fillerova.

2868W    Detecting FLT3-ITD and NPM1 mutations in adult patients with acute myeloid leukemia in the Mongolia. S. Oyunbileg.

2869T    Intragenic large deletions of F8 gene in Hemophilia A: Lessons from DNA sequencing analysis. T. Atik.

2870F    Hyper IgE syndrome, recurrent infection and sex reversal: A new recessive disorder diagnosed by serendipity. K. Mandal.

2871W    Diagnosis X-linked agammaglobulinemia disease by molecular testing. T.M. Ngo.

2872T    The gene expression profile in the acute leukemia with minor BCR/ABL1 fusion. J. Lee.

2873F    Segmental maternal uniparental disomy 14 (UPD14) identified by clinical exome sequencing in a patient with parathyroid adenoma and diverticulosis. S.-H.L. Kang.

2874W    Using linked-read sequencing to resolve pathogenic mutations and overcome pseudogene interference in PKD1 for autosomal dominant polycystic kidney disease testing. C. Kao.

2875T    Infant with ARC syndrome caused by novel homozygous deletion in the VIPAS39 gene. V. Adir.

2876F    Genotype and phenotype of Vietnamese patients with 11beta-hydroxylase deficiency. M.T.P. Nguyen.

2877W    A novel next generation sequencing based genetic test platform for congenital adrenal hyperplasia due to CYP21A2 defects. Q. Lao.

2878T    Transaldolase deficiency (TALDO-D) as a mimic of gestational alloimmune liver disease (GALD). H. Yen.

2879F    Mapping of FAH mutations in hepatorenal tyrosinemia type 1 in consanguineous families. M. Zahoor.

2880W    Compound heterozygous missense variants in the ADAM17 gene cause neonatal inflammatory skin and bowel disease 1. I. Imoto.

2881T    Implementation of three-tier sequencing algorithm improves cystic fibrosis newborn screening. D.M. Kay.

2882F    Clinical and molecular features of X-linked hypophosphatemic rickets patients in a cohort of 32 unrelated Han families in Southern China. L. Liu.

2883W    Genetic study of 20 Egyptian patients with Dyggve-Melchoir Clausen syndrome and identification of 5 novel mutations. G.A. Otaify.

2884T    The endothelial nitric oxide synthase gene variants as a possible predisposing factor for ankylosing spondylitis in a Turkish population. K. Ozdilli.

2885F    Ring chromosomes aberrations at a pediatric Mexican hospital: Two cases with mosaisism of chromosome 13, 46XY / 46, XY, r (13) and chromosome 18, 46, XY / 46, XY, r (18). M. Hurtado Hernandez.

2886W    A 235 Kb deletion at 17q21.33 encompassing the COL1A1 gene, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report. N. Numbere.

2887T    Targeted-NGS on skeletal dysplasias: Evaluating the diagnostic yield. K.C. Silveira.

2888F    Novel CARD14 mutation in pityriasis rubra pilaris type V. T. Miyauchi.

2889W    Exome based genetic testing for skeletal conditions: One lab’s experience in ending the diagnostic odyssey. J. Dong.

2890T    Complex mutation landscape of pseudoxanthoma elasticum revealed by multigene next-generation sequencing panel. A. Saeidian.

2891F    Using the SNP array evaluation tool to optimize the use of resources and guide genetic testing leading to the diagnosis of Netherton Syndrome-A case report. P. Gupta.

2892W    A unified PCR/CE carrier screening workflow for CFTR, SMN1, and FMR1 variants that consolidates the detection of SNVs, Indels, CNVs, and triplet repeat expansions. L. Chen.

2893T    Utility and diagnostic rates of genetic testing for ataxia-related disorders in patients over 50. M. Stosser.

2894F    Characterization of recessive myopathy/ataxia syndrome due to MSTO1 variants. J. Woods.

2895W    Novel HSP candidate gene, HSP1-V2 regulates neurite outgrowth via JNK/c-Jun activation. J. Min.

2896T    Genetics of epileptic encephalopathy. M.Y. Issa.

2897F    Hereditary neuropathies and differential diagnoses: Experiences from more than 300 cases of next-generation sequencing based genetic panel diagnosis. K. Eggermann.

2898W    Identification of causative variations in cases with microcephaly using cytogenetic microarray and next generation sequencing. S. Masih.

2899T    ARX gene polyalanine repeat expansions are not common cause of intellectual disability or epilepsy. E. Nikkola.

2900F    SMN1 and SMN2 copy number assays universally perform on five different thermocyclers. Z. Kabir.

2901W    A novel partial de novo duplication of JARID2 in a patient sharing phenotypic features with deletion patients. K. Kiiski.

2902T    Detection of copy number variations in patients with neurodevelopmental disorders. A.R. Patel.

2903F    A possible new epilepsy locus: Chromosome 4q28.1q28.3 deletion encompassing PCDH10 segregating in a family with a history of epilepsy and intellectual disabilities. G.H. Scharer.

2904W    Clinical next-generation sequencing: A retrospective study of the diagnostic rate in pediatric epilepsy patients. M. Cadieux-Dion.

2905T    Utility of comprehensive next-generation sequenc­ing panel for neuromuscular diseases in Korean patients. D. Jang.

2906F    Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microdulplication in the exon 1 region identified in a Japanese patient with Vici syndrome. S. Shimada.

2907W    Dynamic approach to genetic testing for childhood-onset epilepsy. J. Balciuniene.

2908T    Clinical exome testing as an effective diagnostic tool for epilepsy/seizure disorders. F. Xia.

2909F    Undiagnosed disease program in Korea, one year pilot project: Lessons and learned. W. Kim.

2910W    De novo missense variants in the alternative exon 5 of SCN2A are a rare cause of neurodevelopmental disorders with or without seizures. D.N. Shinde.

2911T    Whole exome sequencing and rhPCR accurately resolve copy number variation in highly homologous SMN1 and SMN2 genes. J. Sistonen.

2912F    Development, validation and application of next-generation sequencing assay for carrier screening of spinal muscular atrophy. X. Meng.

2913W    Clinical approach of Angelman syndrome: A study of 23 cases. I.O. Focsa.

2914T    Behind the SeizureTM: A no-cost, 125-gene epilepsy panel for pediatric seizure onset between 2 and 4 years. S. Aradhya.

2915F    Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported world wide. N. Miller.

2916W    Searching for blood biomarkers to improve the diagnosis and the management of patients with epilepsy. M. Martin.

2917T    PIK3CA mutations in fibrolipomatous hamartomas of nerve. P.R. Blackburn.

2918F    Overcoming challenges in validation of potentially mosaic variants. C.M. Grochowski.

2919W    Low-level parental mosaicism is a characteristic of holoprosencephaly pathogenic variants previously described as de novo. A.F. Martinez.

2920T    Detection of spinal muscular atrophy-associated loss of SMN1 in a clinical whole genome sequencing test. A.L. Halpern.

2921F    Targeted re-sequencing system in inherited muscular diseases. A. Iida.

2922W    A diagnostic odyssey: Multiple platforms fail to detect this MECP2 deletion. S. Ceulemans.

2923T    Bi-allelic ATAD3A and ATAD3B deletions in two siblings with multiple congenital defects including severe pontocerebellar hypoplasia, resulting in neonatal death. F.AT. de Vries.

2924F    Comprehensive genetic analyses implicate highly heterogeneous etiology of idiopathic cerebral palsy spectrum disorders. H. Hu.

2925W    A rapid, high-throughput multiplex PCR/CE assay that reliably quantifies SMN1 copy number. J.N. Milligan.

2926T    Developing custom targeted disease research using optimized assays for next-generation sequencing: An automated system from disease to annotated variants. F. Hyland.

2927F    Diagnostic yields of genetic testing for an unselected ALS cohort from a clinical lab. A.S. Lindy.

2928W    Precision medicine for stress disorders: Diagnostic biomarkers and repurposed drugs. A. Niculescu.

2929T    Maternally inherited 8q11.23 microduplication identified in 5 affected children with ASD from two unrelated multiplex families. M.E.S. Lewis.

2930F    Application of the ClinGen gene-disease clinical validity process to assess the strength of evidence for genes implicated in autism and intellectual disability. B. Bostwick.

2931W    Genetic test results for 523 patients with ASD/ID: The diagnostic yield of multigene analysis (Autism/ID Xpanded test) is higher than conventional first-tier tests, such as FMR1 repeat analysis and chromosomal microarray. A. Shanmugham.

2932T    Clinical symptoms of Fragile X syndrome patients depends on mosaicism in CGG repeat length and FMR1 promoter methylation. D.V. Yudkin.

2933F    Myelin redundancy: A brain biomarker for “aging” versus Alzheimer’s disease in Down syndrome. A. Van Hoek.

2934W    Whole-genome sequencing is more effective than whole-exome sequencing for detecting structural variants. F. Mafra.

2935T    Benign-Ex & DISCRIMINATOR: Assigning pathogenicity classifications to CNVs. A. Hahn.

2936F    Evaluating dosage sensitivity of genes associated with neurodevelopmental disorders. E. Riggs.

2937W    Novel first tier DNA methylation-based diagnostic platform for neurodevelopmental disorders. S. Choufani.

2938T    Constructing a framework for evaluating recurrent CNVs with reduced penetrance or variable expressivity: A guide for clinical interpretation. E. Andersen.

2939F    Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders. A study of 7986 newborns from the Norwegian Mother and Child Cohort. S. Johansson.

2940W    Analysis of copy number variations in 400 patients with mental retardation or developmental delay using aCGH. B. Wu.

2941T    Mutational recurrence in developmental disorders: The use of publicly available data of large trio cohorts for efficient identification of clinically relevant pathogenic variants. F. Lecoquierre.

2942F    Whole-exome trio sequencing in 51 patients with intellectual disability/developmental delay. Y. Dincer.

2943W    Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication. E. Rajcan-Separovic.

2944T    Multi-step whole exome sequencing analyses in a cohort of 816 patients with malformative developmental anomalies and intellectual disability: A 6 years’ summary of achieved diagnostic yield, new identified genes and undertaken strategies. F. Tran Mau-Them.

2945F    Trio Exome Sequencing of a patient with neurodevelopmental disorder and neonatal death identified a pathogenic variant in CLPB gene causing 3-methylglutaconic-aciduria type VII. C.M. Wilke.

2946W    Genomic sequencing in a primarily trio-based cohort of 572 probands with developmental delay and intellectual disability. M.L. Thompson.

2947T    A new case of “KAT6A Syndrome” in a 2-year-old Japanese female with intellectual disability and multiple minor anomalies. Y. Watanabe.

2948F    Diagnostic flow-chart to improve the detection rate and to uncover the genetic heterogeneity in Pitt-Hopkins syndrome: Experience on 61 subjects. M. Zollino.

2949W    Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability. C. Zweier.

2950T    Diagnostic utility of genotype data from SNP arrays in neurodevelopmental disorders. J.K. Nicholl.

2951F    High resolution microarray testing in 420 individuals with developmental disorders in the south of Brazil. M. Ocampos.

2952W    Experience and challenges of variant classification of the DMD gene. H. Cheng.

2953T    Redefining and refining neuromuscular disease diagnostics: Implications for molecular diagnosis and treatment. A. Ankala.

2954F    Advancing genetic diagnosis of facioscapulohumeral muscular dystrophy via next generation genome mapping technology. Y.-W. Chen.

2955W    Detection of mitochondrial heteroplasmic variants in a single clinical whole genome sequencing assay. A. Chawla.

2956T    Clinical utility of Dual Genome NGS panel for mitochondrial disorder: Towards comprehensive understanding about disease etiology. H. Dai.

2957F    Analysis of mtDNA mutations in Serbian patients with Leber's hereditary optic neuropathy. P.G.A. Dawod.

2958W    Plasma derived cell-free mitochondrial DNA (cf-mtDNA): A novel and non-invasive method to identify the mitochondrial DNA haplogroup. C. Newell.

2959T    The complex genetic architecture of mitochondrial disease: Exploration of 1500 cases by whole exome sequencing. S.L. Stenton.

2960F    Long-read nanopore sequencing of human mitochondrial DNA. A. Trimouille.

2961W    Targeted next-generation sequencing facilitates genetic diagnosis and provides novel pathogenetic insights into deafness with enlarged vestibular aqueduct. C-C. Wu.

2962T    Detection of stereocilin (STRC) gene deletions by multiplex digital droplet PCR. R.L. Margraf.

2963F    Identification of novel CNV in PTPRQ associated with autosomal recessive hearing loss by target exome sequencing. Z. Wei.

2964W    Homozygous non-coding sequence change of the OCA2 causing oculocutaneous albinism in a child. A. Maher.

2965T    WGS reveals hidden novel variants in ocular disease genes, MIP and NHS. A.S.L. Ma.

2966F    NGS surprise: Pathogenic haplotypes. I.T. Perva.

2967W    Clinical and molecular characterization of hereditary retinal degeneration in Portugal. V. Peter.

2968T    Elevated incidence of microphthalmia in Chuuk, FSM – a mystery solved? A.S. Schneider.

2969F    Cytogenomic findings in Brazilian patients with OAVS. P.A.S. Abu Hana.

2970W    Genomics and clinical association study in duplication of 5p. L.AR. Bicudo.

2971T    Evaluation of copy number variation (CNV) in deceased patients with previously unknown molecular etiology. C. Chung.

2972F    9q34.11 deletion, including DNM1 and SPTAN1 but lacking STXBP1, causes a distinctive phenotype with intellectual disability, speech delay, and dysmorphic facial features. K. Kurosawa.

2973W    Detection of pericentric inversion of Y chromosome in an infant with Pierre Robin syndrome: A case report. R. Pattarkine.

2974T    Cerebral white matter abnormalities in 6p25 deletion syndrome. I.M. Bader.

2975F    Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes. R. Kosaki.

2976W    Genetic testing in pediatric dentistry: A new way of thinking about oral health care. E. Severin.

2977T    An amplicon panel for the detection of Noonan syndrome (NS). M. Shafiekhani.

2978F    L1CAM partial deletion in a Polish family with X-linked hydrocephalus: Clinical and molecular characterization. M. Mlynek.

2979W    Molecular characterization of complex ring chromosome 11 in an infant with multiple congenital anomalies. R.S. Ebrahim.

2980T    Beckwith-Wiedemann syndrome and Jacobsen syndrome caused by 11p duplication and 11q deletion inherited from paternal pericentric inversion. S. Lim.

2981F    Brazilian experience of 22q11.2 deletion syndrome: Clinical variability and immunodeficiency. M.M. Montenegro.

2982W    Integrated genomic and epigenomic analysis of CNVs involving the NFIX locus. M.L. Duque Lasio.

2983T    Clinical interpretation of regions of homozygosity identified by SNP arrays in consanguineous families. J. Levy.

2984F    Using array-based comparative genomic hybridization to diagnose Pallister-Killian syndrome: Are we there yet? I. Marcussi.

2985W    Genotyping by NGS of 1200 known pathogenic mutations for extensive carrier screening of 228 monogenic recessive diseases helps avoid reporting VUS. D. Bercovich.

2986T    Distribution of MYCN pathogenic variants in Feingold syndrome 1. S.M. Kirwin.

2987F    The utility of a next generation sequencing panel in severe pediatric onset inherited diseases. E. Isik.

2988W    Copy number variation analysis for newborn screening using genome-wide SNP array and its application study on Korean population. J.S. Bae.

2989T    Copy Number Variations (CNVs) data from Brazilian patients with neuropsychomotor developmental delay and congenital malformations obtained through SNP array methodology. L.P.G. Bertollo.

2990F    Precise breakpoint detection of balanced and unbalanced structural variation in whole genome sequencing data using haplotype blocks created by linked-reads. J. Knijnenburg.

2991W    FISH is still the most reliable diagnostic tool for Pallister-Killian syndrome: A case based review. S. Tug Bozdogan.

2992T    Identification of HPSE2 variant in urofacial syndrome by whole exome sequencing. I. Cherkaoui Jaouad.

2993F    Novel pathogenic mutation of ST3GAL5 gene identified in Moroccan family with Salt and Pepper syndrome. G. Egéa.

2994W    A pitfall in the molecular diagnostics of Kabuki syndrome: Functional redundancy of exon 15 in KDM6A. S.K. Fiordaliso.

2995T    Repeat expansion disorders in patients evaluated by clinical whole exome sequencing. S. Gu.

2996F    Rapid turnaround whole exome sequencing for critically ill neonates. C.S. Gubbels.

2997W    Biallelic HDAC3 mutations in a patient with developmental delay, hypotonia and seizures. A. Otsubo.

2998T    The VetSeq study: A pilot study of expanded exome sequencing in the Veterans Health Administration. J.L. Vassy.

2999F    FISH following aCGH analysis identifies unexpected results: Further support for FISH characterization of copy number changes. S.G. Sulpizio.

3000W    Genome sequencing for NICU newborns across the south. K.M. Bowling.

3001T    Whole genome sequencing as a tool for genetic diagnosis and gene discovery in children with medical complexity. M. Snell.

3002F    Highly-sensitive quantitative testing enhances molecular diagnosis of mosaic Beckwith-Wiedemann syndrome. S.W. Baker.

3003W    De novo missense variants in TRAF7 cause developmental delay, congenital anomalies, and dysmorphic features. X. Wang.

3004T    Mosaic Somatic KRAS mutation is responsible for Oculo-cerebro-cutaneous syndrome (Delleman-Oorthuys syndrome): A seventh patient report. A. De Leener.

3005F    Rare mosaic variant caller allows for low level variant detection in unmatched mosaic overgrowth samples: Results from thirty-five individuals. J.J. Johnston.

3006W    Landscape of chromosomal aberrations among pesticides exposed agriculture workers of Punjab, India. M. Ahluwalia.

3007T    Non-invasive preimplantation genetic testing for monogenic diseases and aneuploidies using cell free embryonic DNA. S. Madjunkova.

3008F    Semi-automated variant prioritization pipeline for retinal dystrophy diagnostics. B. Guan.

3009W    A reliable and robust DNA library preparation chemistry in an automated workflow for improved sequencing performance. A. Kothandaraman.

3010T    Mate pair sequencing: Ushering cytogenetics into the era of personalized medicine. N. Hoppman.

3011F    Telomeric association involving chromosomes Y and 19 in a patient with premature ovarian insufficiency. B. Kar.

3012W    How does DNA break form of three-way translocations? T. Kato.

3013T    Sodium acetate induces superoxide dismutase activity change and human chromosome aberrations in lymphocyte. M. Pongsavee.

3014F    Molecular cytogenetic characterization of a female patient with a dicentric X chromosome at breakpoints Xq27 . R.M. Diaz.

3015W    Prevalence of ACMG 59 associated conditions for 1,031,941 patients in a large rural hospital system. L. Baas.

3016T    Rapid exome-based testing for disorders of neonatal or infantile onset. K. Bliven.

3017F    Pipeline improvements enable fast genome sequencing and clinical services. Y. Ding.

3018W    Assessment of the utility of functional studies in variant classification. I. Thibodeau.

3019T    Detection rates of postnatal chromosomal microarray testing based on clinical indication. T. Guo.

3020F    Detection of clinically relevant copy number variation in whole exome sequencing data. F. Xu.

3021W    The clinical impact and analytical validity of copy number variation calling in rapid genomic sequencing. S. Chowdhury.

3022T    Enzyme activity determination and DNA extraction obtained from a single 3.2 mm DBS punch. S.S. Dallaire.

3023F    Improving continuity of care and reducing healthcare costs by focusing on how CYP2C19 and other pharmacogenetic tests are ordered. M. Moore.

3024W    Phenotype clustering and exome reanalysis approach to aid identification of gene-disease associations: A pilot study using genes in the RNA exosome pathway. R. Ghosh.

3025T    Report of five families with autosomal recessive bestrophinopathies (ARB). I. Habibi.

3026F    Expanding the options of secondary findings in whole exome sequencing. J. Machado.

3027W    24 hours rapid diagnosis for critically ill infants through trio whole exome sequencing. Y. Qian.

3028T    Development and validation of a 30 gene pharmacogenetic genotyping panel: Comprehensive allele and copy number detection. S.A. Scott.

3029F    A rapid and scalable platform for direct modeling of human developmental disorders in mice using CRISPR/Cas9 genome editing. S.A. Murray.

3030W    Exome and genome sequencing for Ontario adults with undiagnosed complex hereditary disorders. M. Gutierrez Salazar.

3031T    The impact of depth of coverage from sample quality in whole genome sequencing. K. Park.

3032F    Improving quality, cost and turnaround time using the Illumina NovaSeq 6000 System for rapid whole genome sequencing. L. Van Der Kraan.

3033W    Solving the mystery of rare genetic disorders: An integrated approach to accelerate diagnosis of rare diseases, facilitate gene discovery and improve management. X. Wang.

3034T    Genotype-phenotype analysis of 523 pediatric patients referred for genetics evaluation who underwent whole exome sequencing. M.N. Ziats.

3035F    The use of multi-mode reader for the quantification of libraries for next generation sequencing systems. J. Adigun.

3036W    Genome-wide SNP array analysis reveals contribution of mosaicism and chimerism in pediatric genomic diagnostics. B. Weckselblatt.

3037T    The potential significance of Alu elements in genetic diseases as assessed through identification of rare insertion events via whole genome sequencing in a cohort of pediatric patients. M.S. Wright.

3038F    A simplified, rapid approach to targeted resequencing of dried blood spot samples. D. Mandelman.

3039W    Identification of novel CYP2D6 haplotypes that interfere with TaqMan copy number analysis. A. Turner.

3040T    Evolution of dihydropyrimidine dehydrogenase (DPD) diagnostics in a single center in a time-period of eight years. B.J.C. van den Bosch.

3041F    A novel NGS solution for combined PGT-M and PGT-A: Analysis for β-thalassemia. M. Brockman.

3042W    A simple NGS method for detection of sequence variants causing alpha and beta thalassemia. F. Oliv.

3043T    CNVs inherited from insertion carriers are rare in a large cohort. R.D. Burnside.

3044F    Cytogenetically detected inversions are rarely formed by ectopic recombination between inverted repeats. C. Carvalho.

3045W    Whole-genome sequencing analysis of copy-number variation (CNV) using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis. B. Zhou.

3046T    Scaling the resolution of sequence variant classification discrepancies in ClinVar. S.M. Harrison.

3047F    Analytical validation of qPCR detection of CYP2D6 copy number variation. J.M. Lubieniecka.

3048W    A retrospective analysis of clinical whole genome sequencing results after non-diagnostic microarray or whole exome sequencing. A. Scocchia.

3049T    Implementation of copy number variant detection from existing exome and genome samples. E. Farrow.

3050F    Supporting DNA variant interpretation: The global variome shared LOVDatabases. J.T. den Dunnen.

3051W    New approaches in the cystic fibrosis diagnosis: use of high-throughput sequencing technologies and in silico tools to identify and predict pathogenic variants. S.V.N. Pereira.

3052T    Advances in targeted NGS: Towards robust ultralow mutation detection in small and large DNA panels. E. Lader.

3053F    The accuracy of computer-based diagnostic tools for the identification of concurrent genetic disorders. D.Y. Park.

3054W    Experience with rapid exome sequencing of critically ill children: One year milestone. K.M. Abbott.

3055T    Comparative quality of whole exome sequencing among commercial laboratories for patients in the Undiagnosed Diseases Network. D.R. Murdock.

3056F    A diagnostic odyssey ended via detection of CNV from whole-exome sequencing data. M. Wang.

3057W    Up-to-date literature mining increases the clinical utility of whole exome sequencing. W. He.

3058T    Double or multiple hits of CNV could be etiological factors for genetic disorders. K. Wittig.

3059F    How to measure loss of chromosome Y (LOY). M. Danielsson.

3060W    Application of ACMG criteria to classify variants in the human gene mutation database. H.Q. Qu.

3061T    How to be atypically consistent: Clinical classification of atypical canonical splice variants. J.D. Murdoch.

3062F    Capture of sample identification SNPs in NEBNext Direct target enrichment panels. A.B. Emerman.


Cardiovascular Phenotypes

 

3063W    CD163: A possible novel candidate gene for Moyamoya disease. L. Pisani.

3064T    Novel risk genes and mechanisms implicated by exome sequencing of 2756 individuals with pulmonary arterial hypertension. N. Zhu.

3065F    A new form of inherited cardiomyopathy leads to to changes in heterochromatin structure in man and mice. N. Abdelfatah.

3066W    Characterization of Egyptian genetic variation in relation to cardiovascular phenotype. Y. Aguib.

3067T    Defining the genetic architecture of hypertrophic cardiomyopathy in the Egyptian population. M. Allouba.

3068F    Identification of genetic defects in phenotypically defined subtypes of patients with Ebstein anomaly. R. Cabrera.

3069W    The phenotype of a CRISPR mouse model of a human gap junction C2 (connexin 47) mutant causing lymphedema. R.P. Erickson.

3070T    SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissection. D. Guo.

3071F    Genetic variants in familial abdominal aortic aneurysms. A. IJpma.

3072W    Investigation of the molecular basis of systemic to pulmonary arteriovenous malformations. R.P. Martin.

3073T    The novel RNF213 variant observed in patient with moyamoya and systemic artery stenosis diseases. O. Migita.

3074F    Preliminary variant classification results from the Dilated Cardiomyopathy (DCM) Precision Medicine Study. A. Morales.

3075W    Autosomal recessive cutis laxa syndrome with cardiovascular involvement. H. Morisaki.

3076T    Congenital mydriasis in the multisystemic smooth muscle dysfunction syndrome: A harbinger of progressive vasculopathy, expanding the phenotype of the ACTA2 R179C mutation. J.N. Peeden.

3077F    Further defining the extent of pleiotropy for genes with de novo pathogenic variants predisposing to Moyamoya disease, intellectual disability, and congenital heart disease. A. Pinard.

3078W    Genetic architecture of pulmonary hypertension as revealed by large gene panel sequencing in a clinical setting. F. Soubrier.

3079T    High clinical impact KCNQ1 mutation present in 1/40 Amish: Culturally-appropriate return of results from population whole exome sequencing (WES). E.A. Streeten.

3080F    Targeting ER stress for collagen IV disorders reveals tissue specific outcomes and reduces intracerebral haemorrhaging. T. Van Agtmael.

3081W    A PLN nonsense variant causes dilated cardiomyopathy with heart failure in a novel autosomal recessive inheritance mode. D.W. Wang.

3082T    A new catecholaminergic polymorphic ventricular tachycardia mechanism associated with numerous sudden deaths. M. Blancard.

3083F    Six arterial tourtosity case with novel and known homozygous and compound heterozygote missense variations in the SLC2A10 gene: Genotype/phenotype correlations. A. Kablan.

3084W    A novel de novo heterozygous variant in ACTC1 in a patient with a Noonan syndrome phenotype. V.EH. Kim.

3085T    Whole exome sequencing identifies a novel candidate gene in an Ashkenazi Jewish family with Tetralogy of Fallot. J. Liu.

3086F    Whole exome sequencing improves diagnostic precision in individuals affected with thoracic aortic aneurysm and dissection. B. Wolford.

3087W    Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. G. Delplancq.

3088T    Genome-editing patient-specific induced pluripotent stem cells to investigate the functional role of RARG gene in doxorubicin-induced cardiotoxicity. H. Huang.

3089F    Genotype-phenotype: Phenotype differences when studying individual mutations in the cysteines of cbEGF-like domains in fibrillin-1 gene (FBN1). J.A. Aragon-Martin.

3090W    Heterozygote Familial Hypercholesterolemia (HeFH) genotype-phenotype correlations among two AstraZeneca sponsored studies. K. Carss.

3091T    Electronic health record phenotypes of patients with rare loss-of-function variants within genes associated with heart disease. C. Haggerty.

3092F    Characterization of the genetic architecture and identification of novel genes and variants in an infantile cardiomyopathy cohort. C. Gonzaga-Jauregui.

3093W    Familial autonomic ganglionopathy and neurogenic orthostatic hypotension associated with rare CHRNA3 variants. J.A. Phillips.

3094T    Rare variants in CAPN2 underlie isolated hypoplastic left heart syndrome. J.J. White.

3095F    Aortic root dilation and mitral valve prolapse in a patient with Tatton-Brown-Rahman syndrome. H. Nguyen.

3096W    Aortic dissection in a woman with a variant of uncertain significance in TGFBR2 gene. D. Aguilar y. Mendez.

3097T    A national registry of patients with inheritable connective tissue disorders to identify genetic modifiers of clinical severity through whole exome sequencing. J.F. Calderon.

3098F    Disruption of the gut barrier modulates lesion burden in mouse models of CCM. C. Gallione.

3099W    The molecular and physiological roles of ABCC6: More than meets the eyes. O. Le Saux.

3100T    Common variants in TGFβ/BMP9 pathway genes and disease severity phenotypes in hereditary hemorrhagic telangiectasia. L. Pawlikowska.

3101F    Recombinant human ENPP1-Fc protein prevents neointima formation in generalized arterial calcification of infancy by generating AMP. F. Rutsch.

3102W    Metabolomic signature of angiopoietin-like protein 3 deficiency: Fasting and postprandial effects of loss-of-function genetic variants. E. Tikkanen.

3103T    Novel ACTN2 mutations are associated with cardiomyopathy and hypertrophy in human cardiac tissue and iPSC-derived cardiomyocytes. M.E. Lindholm.

3104F    Patient-specific iPSC disease modeling reveals tissue-specific molecular mechanisms of LMNA-associated cardiac disease. H.P. Widyastuti.

3105W    Associations of inflammatory cytokines (IL-6 and IL-16) with coronary artery disease in Sudan. H.H. Musa.

3106T    Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes. C.D. Anderson.

3107F    An oligogenic model for congenital heart defects: whole-genome sequencing of congenitally corrected transposition of great arteries shows a mutation load effect at 228 loci involved in cardiac patterning. S. Benko.

3108W    Recurrent copy number variation in patients with thoracic aortic aneurysm affects dosage sensitive genes expressed in aorta. E. Brosens.

3109T    A genome-wide polygenic risk score for low-density lipoprotein cholesterol is associated with coronary artery disease risk in >400,000 individuals in the UK biobank. K. Chaudhary.

3110F    The role ROR-alpha target genes post-mortem advanced atherosclerotic plaques and patients with CAD. N. Coban.

3111W    Gain of function variation in SOS1 as a cause of dilated cardiomyopathy. J.R. Cowan.

3112T    The effect of genetic determinants of arsenic metabolism efficiency on hypertension risk. D.A. Delgado.

3113F    Rare variants in previously identified linkage regions associated with carotid plaque in Dominican families. N. Dueker.

3114W    TRPV4 variants found to be suggestively associated with lung, renal and menstruation phenotypes in BioVU fail to replicate in UK Biobank and GERA cohorts. M.G. Ehm.

3115T    Transcriptome signature of hypertension in African Americans: Findings from machine learning. A. Gaye.

3116F    Unraveling the relationship between blood pressure and kidney function: Genetic risk score phenome-wide association studies in the Million Veteran Program. A. Giri.

3117W    Rare variants in the 22q11.2 deletion region may contribute to the development of conotruncal heart defects in non-deleted patients. D.A. Hammond.

3118T    Spontaneous coronary artery dissection is infrequent in individuals with thoracic aortopathies despite shared genetic susceptibility. H.L. Hill.

3119F    Genome-wide linkage and association studies of circulating apolipoproteins CIII and E levels in Amerindians. W.-C. Hsueh.

3120W    Placental growth factor locus is associated with decreased risk of coronary artery disease and incident major adverse cardiac events. P. Huang.

3121T    A multiplex pedigree illustrates the challenges of applying a Mendelian monogenic paradigm to the interpretation of rare variants in familial dilated cardiomyopathy. E. Jordan.

3122F    The transcriptomic signature and regulatory landscape of iPSC-derived megakaryocytes and platelets. K. Kammers.

3123W    Associations of genetically-inferred ancestry with hypertension traits. J.M. Keaton.

3124T    Whole genome sequencing analysis of blood bressure phenotypes in the NHLBI Trans-Omics for Precision Medicine Program. T. Kelly.

3125F    Genetic association study of venous thromboembolism based on whole-genome sequencing in the trans-omics for precision medicine (TOPMed) program. C.A. Laurie.

3126W    The CTLA4 gene is associated with Kawasaki disease and coronary artery lesions: Case-control and family-based studies. Y. Lee.

3127T    Genetic liability for clinical risk factors differentially associates with heart failure subtypes. R.T. Levinson.

3128F    The roles of SMYD4 in epigenetic regulation of cardiac development in zebrafish. D. Ma.

3129W    Trans-ethnic meta-analysis of genome-wide association studies for coronary artery disease reveals genetic differences between Japanese and Europeans. H. Matsunaga.

3130T    A genetic predictor of thyroid stimulating hormone levels is inversely associated with atrial fibrillation risk. J.D. Mosley.

3131F    Genome-wide association study of carotid artery disease in the eMERGE Network. M.R. Palmer.

3132W    Genetic sequencing and mass spectrometry biomarkers link diagnosis and treatment precision for cardiovascular disease. J.E. Posey.

3133T    Investigating disease progression through single-cell transcriptional profiling of CD45+ immune cells at the atherosclerotic plaque. A. Sartori.

3134F    A Mendelian randomization analysis of hemostatic factors in peripheral artery disease. A.M. Small.

3135W    The TAGA Study: A new family study for the genetic analysis of aortic abdominal aneurysm. M. Vázquez-Santiago.

3136T    Significant enrichment of damaging recessive genotypes in cilia genes is associated with laterality defects in a cohort of 2391 trios with congenital heart disease. W.S. Watkins.

3137F    Assessing and characterising the causal association of glycine with risk of coronary heart disease. L.B.L. Wittemans.

3138W    The relationships between genotype and histopathological alterations in hypertrophic obstructive cardiomyopathy patients. KL. Yin.

3139T    A new African risk factor for ventricular arrhythmia. P. Guicheney.

3140F    Genetic variants of electrical storm in post myocardial infraction patients. A. Rangaraju.

3141W    Mouse and human genomic studies identify modifiers of blood pressure and supravalvar aortic stenosis in elastin insufficiency and Williams Beuren syndrome. B. Kozel*.

3142T    Whole genome sequencing approach to identify genetic variation influencing heart failure: A Singaporean perspective. C. Bellis.

3143F    Genetic risk scores for cardiometabolic traits in sub-Saharan Africans. K. Ekoru.

3144W    Genomics to medicine - P5 FinHealth Study. K. Kristiansson.

3145T    Overview of the NHLBI Trans-Omics for Precision Medicine (TOPMed) program: Whole-genome sequencing of >100,000 deeply phenotyped individuals. C. Laurie.

3146F    Phenome wide scan of two LPA loss-of-function variants reveals insights for drug development. S.E. Ruotsalainen.

3147W    MyGeneRank: A mobile app for polygenic risk estimation. N.E. Wineinger.

3148T    Causal association between birth weight and adult diseases: Evidence from a Mendelian randomisation analysis. X. Zhou.

3149F    GWAS of resistant hypertension in over 70,000 participants from the Million Veteran Program identifies genes with altered expression in the adrenal gland. J.N. Hellwege.

3150W    Common variants do not explain significant linkage peaks of carotid artery traits in exceptionally long-lived families. A.L. Kuipers.

3151T    Assessment of anthropometric and lifestyle risk factors for the prediction of cardiovascular diseases in three generations cohort among North Indian population. R. Kumar.

3152F    Bilirubin and ischemic heart disease: A two-sample Mendelian randomization study. J. Lee.

3153W    Cohort profile of the EPOZ study: 40 years of follow-up. N. Terzikhan.

3154T    Role of segregation in multiplex families for variant discovery in cardiac birth defects. L.J. Martin.

3155F    Association between genetic variants of functional candidate genes and its interaction with smoking on the risk of coronary acute syndrome in an admixed population. L. Franco.

3156W    Variants affecting menopausal timing associate with CVD, stroke and blood pressure in >26,000 Finns. A. Joensuu.

3157T    Characterizing proof-of-concept genes for familial hypercholesterolemia in vivo using zebrafish model systems. B.V.V. Manoj Kumar.

3158F    Association between titin loss-of-function variants and early-onset atrial fibrillation. S. Choi.

3159W    Gene-based genome-wide association analysis implicates novel genes involved in venous thromboembolism in African, Asian, and European populations. W. Hernandez.

3160T    Trans-ethnic genetic analysis of ischemic stroke in the VA Million Veteran Program. J.E. Huffman.

3161F    Genome-wide meta-analysis in >30,000 Caucasian subjects identify 7 novel loci for glycine. Q. Jia.

3162W    Genetic determinants of plasma bioactive lipids, potential novel biomarkers of cardiovascular disease. K. McGurk.

3163T    Genome-wide association study of the QRS complex. K. Norland.

3164F    Genomic loci associated with lipid traits in Latinos. I. Kullo.

3165W    A comprehensive evaluation of the genetic architecture of sudden cardiac arrest. R.N. Mitchell.

3166T    Metabolomic consequences of PCSK9 inhibition compared with statin therapy. P. Würtz.

3167F    Towards a multi-modal health assessment: Gaining insights into cardio-metabolic conditions. I. Shomorony.

3168W    Untargeted metabolomics analysis identifies and replicates serum metabolites associated with kidney function among Bogalusa Heart Study and Multi-Ethnic Study of Atherosclerosis participants. J.L. Nierenberg.

3169T    The Hutchinson-Gilford progeria syndrome mutation, LMNA c.1824C>T, is present as a somatic mutation in chronic kidney disease. H.T. Helgadottir.

3170F    Genome-wide association study of angioedema induced by agents acting on the angiotensin system. M. Wadelius.

3171W    Independent effects of lifestyle and genetic factors on risk for coronary artery disease in a large and deeply-phenotyped cohort. A.T. Magis.

3172T    A phenome-wide association study of genes involved in genetic syndrome reveals pleiotropic effects of common and rare alleles. C. Tcheandjieu.

3173F    Replication of a single nucleotide polymorphism variant in CETP gene associated with HDL level with tiled regression in the ClinSeq® Study. H. Sung.

3174W    A pedigree-based study in Mexican Americans identifies altered plasma lipidome profiles in relation to ANGPTL3 levels and cardiovascular disease. N.B. Blackburn.

3175T    Next-generation sequencing aligned to high-resolution nuclear magnetic resonance (NMR) measurements reveal role of rare variation in circulating metabolic biomarkers. F. Riveros Mckay Aguilera.

3176F    Influence of a coronary-artery-disease-associated genetic variant on FURIN expression and effect of furin on macrophage behavior. S. Ye.

3177W    Modifiable risk factors and heart failure: A Mendelian randomization study. S. Grover.

3178T    Utilizing admixture mapping to identify genomic regions associated with coronary artery calcification in African Americans. Z. Liu.

3179F    Investigating pleiotropic architecture of 92 plasma proteins related to cardiovascular disease. L. Repetto.

3180W    Toward precision medicine: LpPLA2 activity and a LpPLA2 GRS show an effect on cardiovascular outcomes stratified by glycaemic control. M.K. Siddiqui.

3181T    Investigation of the role of Growth Differentiation Factor 15 (GDF15) in human metabolic syndrome through population genetics. E.M. Wigmore.

3182F    Mutation spectrum in a large cohort of hypertrophic cardiomyopathy patients in Korea. D. Yang.

3183W    Sodium, potassium and cardiovascular disease in the UK Biobank: Observational analyses, GWAS and Mendelian randomization. D. Zanetti.

3184T    Genome-wide analysis of ex vivo coagulation biomarkers provides new insights into the genetic risk for venous thromboembolism. J.D. Backman.

3185F    Heritability of atrial fibrillation across a spectrum of clinical risk factors. L. Weng.

3186W    Identification of novel structural variations affecting common and complex disease risks with >16,000 whole genome sequences from ARIC and HCHS/SOL. G. Jun.

3187T    Exome sequencing reveals variants in F5 are associated with ACE inhibitor and ARB induced angioedema. C. Maroteau.

3188F    Natural genetic variation of the human atrial transcriptome, proteome and metabolome. I. Assum.

3189W    Linkage evidence and TOPMed whole genome sequencing identify multiple genes on chromosome 1 with rare variants associated with blood pressure. K.Y. He.

3190T    Gender and age possibly affect the moderation of BDNF Val66Met genotype on psychosocial stress-related cardiovascular disease risk factors in a large harmonized sample? R. Jiang.

3191F    Mega-analysis of the EBF1 GxE association: Evaluation of differences in gene-by-stress interaction across race, sex, and age in harmonized datasets of over 27,000 individuals. A. Singh.

3192W    Multi-ancestry genome-wide meta-analysis incorporating gene-sleep duration interactions in 62,970 individuals identified potential novel loci for blood pressure. H. Wang.

3193T    Genetic association studies of small vessel ischemic stroke stratified by APOE ε2/3/4 genotype. J. Chung.

3194F    Hyperuricemia is an early onset metabolic disorder causally associated with cardiovascular disease event in Han Chinese. K.M. Chiang.

3195W    Genetic association of arterial stiffness index with incident coronary artery disease and congestive heart failure. S.M. Zekavat.

3196T    Genome-wide Mendelian randomization under pervasive pleiotropy. Q. Zhao.

3197F    NOTCH3 p.R544C mutation is a common and significant risk factor for ischemic stroke in Taiwanese population. Y.C. Liao.

3198W    An extreme phenotype approach identifies novel genes associated with carotid plaque in a multi-ethnic cohort. B. Doliner.

3199T    Genetics of cardiovascular disease risk factors in the Tsimané. H.M. Highland.

3200F    Whole genome sequencing identifies multiple rare variants in GTPase-activating protein (DLC1) associated with sleep disordered breathing. J. Liang.

3201W    Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease. K. Thiha.

3202T    Loss-of-function variant in ANGPTL4, ANGPTL8 and risk of coronary and metabolic disease. P. Helkkula.

3203F    Bayesian whole genome association analysis of gene-age interactions. M. Kerin.

3204W    A statistical method for testing pleiotropy using GWAS summary statistics. X. Li.

3205T    Joint modeling of rare inherited and de novo variants identifies congenital heart disease risk genes. M. Li.

3206F    Multi-phenotype genome-wide association study of protein levels in individuals with pulmonary arterial hypertension. E. Pileckyte.

3207W    A multi-phenotype analysis of coagulation factor plasma levels identifies genetic variants influencing levels of fibrinogen and Factor XIII. M. Lerro.

3208T    Investigating the role of β4GALT-I and β4GALT-I N352S in lipid metabolism and atherosclerosis. G. Della Gatta.

3209F    Inter-species differences in response to hypoxia and oxidative stress in iPSC-derived cardiomyocytes from humans and chimpanzees. M.C. Ward.

3210W    Integrative Bayesian analysis of high-throughput functionalization assays identifies variants controlling the expression of CD36 and other platelet genes. A. Ghazi.

3211T    DIVaH: A variant calling algorithm to identify CRISPR/Cas9 induced mutations in zebrafish. E. Mazzaferro.

3212F    Novel molecular signatures for heart failure: A comprehensive study of mRNA, lncRNA, and miRNA expression. Y. Wang.

3213W    Pre-annotation of genomic variants related to cardiovascular phenotypes for clinical reporting with the Neptune Pipeline. E. Venner.

3214T    Validation of CNV detection in targeted panels and results from reanalysis of a historical cohort of cardiac patients. S.P. Sadedin.

3215F    A comprehensive and accurate knowledgebase system for variant clinical interpretation using ACMG-AMP standard guideline in inherited cardiac diseases and hereditary cancers. C. Chen.

3216W    How well can we classify coronary artery disease using all genetic data and choosing the best classification algorithm. D. Gola.

3217T    Mosaic mutations contribute to congenital heart disease. A. Hsieh.

3218F    An artificial intelligence-based next-generation integrated genetic-epigenetic prediction of 5-year risk for symptomatic coronary heart disease. M.V. Dogan.

3219W    PseudoNet: reconstructing pseudo-time in single-cell RNA-seq data using neural networks. J. Lakkis.

3220T    Biomarker predictors of acute ischemic stroke: Results of metabolome in ischemic stroke study (MISS). C. Bejar.

3221F    Metabolic profiling and sequencing at biobank scale for prioritizing drug targets. S. Ruosaari.

3222W    Genetic background drives molecular variability in a large-scale collection of iPSC-derived cardiomyocytes. M.K.R. Donovan.

3223T    Disease Navigator: Utilizing model organisms for functionalizing human genome variation. M. Tomczuk.

3224F    Comprehensive analysis of chromatin organization delineates regulatory programs of human cardiomyocyte differentiation. Y. Zhang.

3225W    Mapping of HiChIP chromatin looping QTLs in human coronary artery smooth muscle cells and their relationship to other regulatory and disease variation. M. Pjanic.

3226T    A promoter interaction map for cardiovascular disease genetics. L.E. Montefiori.

3227F    Methylation at nucleotide C62 in spliceosomal RNA U6 alters mRNA splicing which is important for embryonic development. A. Ogren.

3228W    Enhancer-associated long non-coding RNA regulates CTGF locus in calcific aortic valve stenosis. A. Chignon.

3229T    Gene expression profiling of coronary vasculopathy and rejection episodes after cardiac transplantation. O. McDaniel.

3230F    Using endothelial cell molecular QTLs to dissect coronary artery disease risk. L.K. Stolze.

3231W    Rejuvenation of senescent endothelial progenitor cells by extracellular vesicles derived from mesenchymal stromal cells. L. Wang.

3232T    Coronary artery disease genes SMAD3 and TCF21 promote opposing interactive genetic programs that regulate smooth muscle cell differentiation and disease risk. Q. Zhao.

3233F    Genetic and epigenetic fine mapping of complex trait associated loci in the human liver. M. Caliskan.

3234W    Epigenome-wide methylation survival analyses identify seven loci associated with time to recurrent stroke and composite vascular endpoints in participants from the Vitamin Intervention for Stroke Prevention (VISP) clinical trial. N.M. Davis Armstrong.

3235T    Determining the genetic basis of anthracycline-cardiotoxicity by transcriptomic response QTL mapping in a panel of induced cardiomyocytes. D.A. Knowles.

3236F    Enhancer-mediated enrichment of interacting JMJD3-DDX21 to ENPP2 locus prevents R-loop formation and promotes transcription elongation. D. Argaud.

3237W    Genetic and environmental effects on vascular endothelium gene regulation and cardiovascular traits. A.S. Findley.

3238T    Trans-eQTL and GWAS associations at ZNF800 missense variant rs62621812 suggest an extensive regulatory role in adipose tissue. A.K. Iyengar.

3239F    Large chromosome 4q25 intergenic deletion disrupts chromatin structure and leads to familial sinus node dysfunction. H. Murata.

3240W    Dynamic effects of genetic variation on gene expression during cardiomyocyte differentiation. K. Rhodes.

3241T    Dissecting NF-kB function using multi-species, multi-tissue epigenomic comparisons. M.D. Wilson.

3242F    Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks. M.-K. Choy.

3243W    Circulating miR-92a could be a possible biomarker of change in blood pressure: A four-year follow-up study. R. Fujii.

3244T    Identification and annotation of cardiac relevant long noncoding RNAs in iPSC-derived cardiomyocytes. M. D'Antonio.

3245F    External chromatin accessibility quantitative trait loci (caQTLs) are enriched for association with human GWAS data independently of internal caQTLs. W.W. Greenwald.

3246W    Susceptibility enhancers for coronary artery disease: From association to mechanism. M.U. Kaikkonen.

3247T    Unprogrammed presentation number

3248F    Aberrant mechanosensing triggers acute aortic aissections in a mouse model with a low penetrant risk allele in Myh11R247C. S. Wang.

3249W    Single cell profiling of cardiovascular development under hyperglycemic conditions reveals mechanistic links to congenital heart disease. J.E. Gorzynski.


Statistical Genetics and Genetic Epidemiology

 

3250T    Genetic associations between obesity and asthma: A genome-wide cross trait analysis of 450,000 individuals from UK Biobank. Z. Zhu.

3251F    Polygenic risk stratified by eQTL influence for obesity and related comorbidities for patients from the Geisinger MyCode Community Health Initiative. M. Butkiewicz.

3252W    Genome-wide analyses of secondary outcomes with electronic health records. C. Gao.

3253T    Effect of adiponectin level and genetic variation of ADIPOQ and CDH13 on diabetic retinopathy. W.L. Liao.

3254F    Genome-transcriptome-wide association of renal and morphometric traits across glomerular and tubular tissues in diabetic Pima Native Americans. A. Liu.

3255W    Genome-wide association study identifies susceptibility loci for proliferative diabetic retinopathy in Africans. C. Liu.

3256T    Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. S. Loomis.

3257F    Undiscovered novel polymorphisms in the SOWAHC-RGPD5 intergenic region on chromosome 2q are associated with diabetic retinopathy. S.Y. Rhee.

3258W    Genome-wide association study of type 2 diabetes phenotypes in Sāmoans. E.M. Russell.

3259T    Genome-wide association study identifies novel associations with serum cytokine levels in southwestern native americans. L.E. Wedekind.

3260F    Rare variation in and near CREBRF and association with fasting glucose in non-Polynesian participants in the TOPMed Program. R.L. Minster.

3261W    Rare variants explain a substantial portion of the missing heritability of the uric acid level. K. Misawa.

3262T    Replicating type 2 diabetes GWAS results using self-reported data. A. Annis.

3263F    A genome-wide and phenome-wide association study in individuals of African Ancestry identified novel loci of body mass index and obesity-related diseases. Y. Huang.

3264W    Evidence for bidirectionally-causal relationships between dental disease and metabolic health. S. Haworth.

3265T    Mendelian randomization analysis provides evidence for a casual role of serum triglyceride leads to increased glycated hemoglobin in the population of Taiwan. C. Hsiung.

3266F    Non-alcoholic Fatty Liver Disease (NAFLD) increases risk for Type 2 Diabetes (T2D) but decreases susceptibility to obesity: A Mendelian randomization study. Z. Liu.

3267W    The human gut microbiome and obesity – causal or confounded companionship? K.H. Wade.

3268T    Modeling with semi-continuous predictors: Testing and effect estimation in the presence of zero-inflated metabolites. S.H. Chu.

3269F    Metabolite-GWAS of obesity in the Atherosclerosis Risk in Communities (ARIC) study. K.L. Young.

3270W    A Mendelian randomisation study shows a causal role for the gut microbiome in insulin response, obesity and type 2 diabetes. N.R. van Zuydam.

3271T    Estimating carrier frequency of newborn screening disorders by using the 3.5KJPN whole-genome reference panel. Y. Yamaguchi-Kabata.

3272F    Clinical intervention study: Assessing the effect of genomic data-guided individualized lifestyle coaching platform for body fat loss. H. Kim.

3273W    FTO in the Polynesians: Association of FTO-rs9939609 with body mass index in a fixed-effect meta-analysis in people of Polynesian ancestry living in Aotearoa/New Zealand and other Pacific nations. M. Krishnan.

3274T    Multi-omics of BMI in Hispanics by sparse canonical correlation analysis: IRAS family study. K.D. Taylor.

3275F    Polymorphism rs822396 (-3971 A/G) of ADIPOQ gene as a risk factor to develop metabolic syndrome in Mexican population: Preliminary results. L. Rubio Chavez.

3276W    Transethnic meta-analysis of adiposity traits: Use of large population biobanks reveals multiple ancestry-specific association signals. Z. Fairhurst-Hunter.

3277T    Addressing the missing data issue in multi-phenotype genome-wide association studies. M.D. Anasanti.

3278F    Using short identical-by-descent (IBD) segments to map disease genes in unrelated case-control studies. W.-M. Chen.

3279W    Machine learning in multi-omics data to assess longitudinal predictors of glycaemic trait levels. M. Kaakinen.

3280T    Joint proteomic quantitative trait locus analysis sheds light on the genetic architecture of proteins involved in obesity. H. Ruffieux.

3281F    High dimensional mediation for causal gene screening. Q. Zhang.

3282W    Association of Glucose-6-phosphate dehydrogenase (G6PD) variants with non-glycemic lowering of Hemoglobin A­1c (HbA1c) in East Asians. V.J.Y. Lim.

3283T    Causal effects of blood lipids on breast cancer risk: A Mendelian randomization study. C. Nowak.

3284F    Genomewide association for high-density lipoprotein change levels over time in three large combined studies. M.F. Feitosa.

3285W    Genome-wide association study of FADS1 ω-6 activity in a homogeneous island population. M. Daya.

3286T    A powerful and adaptive gene based method to identify multiple traits associated genes using GWAS summary data. X. Guo.

3287F    Variation in serum PCSK9, cardiovascular disease risk and potential unanticipated effects of PCSK9 inhibition: A GWAS and Mendelian randomization study in the HUNT study, Norway. B. Brumpton.

3288W    Large-scale genetic analysis identifies 17 novel loci for asthma. Y. Han.

3289T    Utilizing epsistasis to investigate bronchodilator response in African American youth. J. Magana.

3290F    TBC1D29 is associated with response to inhaled corticosteroids in adult asthmatics. A.L. Wang.

3291W    Whole-blood eQTL analysis of multiple sclerosis patients from Puerto Rico. H. Bai.

3292T    Developing an efficient method for identifying gene-gene interaction via random forest and least absolute shrinkage and selection operator. S. Wu.

3293F    GWAS of six red blood cell traits identifies multiple associations with ancestry-specific lead variants: The PAGE study. C.J. Hodonsky.

3294W    Violence exposure, stress biomarkers and gender differences in buccal telomere length among African American young adults. L. Jackson.

3295T    GWAS of iron traits in Chilean children of the Santiago Longitudinal Study (SLS). G. Chittoor.

3296F    Characterisation and somatic mosaicism of the human glycophorin DUP4 structural variant, and association with haemoglobin levels in a malaria-endemic village. W. Algady.

3297W    Contributing to an inflammatory bowel disease meta-analysis with 8000 non-European whole genomes. B. Avila.

3298T    Retrospective epidemiological study of Venezuelans patients with Haemoglobinopathies. Haematological characteristics, most frequent mutations, comprehensive clinical care and genetic counselling programs. A.B. Falcon de Vargas.

3299F    Investigating the burden of nonsynonymous variation in PI3Kdelta pathway genes of individuals affected with idiopathic bronchiectasis. E.M. Schmidt.

3300W    Whole transcriptome cis-eQTL analysis of the nasal airway epithelium in childhood asthmatics reveals functional asthma risk variants. S.P. Sajuthi.

3301T    Novel strategies for gene-environment-wide interaction scans in family-based studies of admixed individuals. Y. Chen.

3302F    Genome-wide scan identifies loci for white blood cell and platelet traits in a multi-ethnic study from population architecture using genetic epidemiology (PAGE). S.A. Bien.

3303W    Association between the risk of monoclonal B-cell lymphocytosis (MBL) and the chronic lymphocytic leukemia (CLL) polygenic risk score (PRS). G. Kleinstern.

3304T    Whole genome sequences association with E-selectin levels reveals loss-of-function variant in African Americans. L.M. Polfus.

3305F    Understanding the genetic determinants of peanut-specific IgG4 in the learning early about peanut allergy (LEAP) study. A.H. Winters.

3306W    Genetic modifiers of IgE response in AD. C. Polymeropoulos.

3307T    A genome-wide association study of intracellular phenotypes reveals novel haematological biology. P. Akbari.

3308F    Optimizing chronic hepatitis C treatment in a Canadian cohort using precision medicine based methods. J.J. Lin.

3309W    Identifying transcriptional and epigenetic mechanisms associated with genetic risk for inflammatory bowel disease using causal mediation analysis. K.T. Nguyen.

3310T    Whole-genome sequencing identifies CRISPLD2 as a candidate gene for lung function in children with airway hyperresponsive asthma. P. Kachroo.

3311F    Identifying modifying genes to explain the variation in severity of fragile X-associated primary ovarian insufficiency. C.E. Trevino.

3312W    Kidney Genome Atlas: A whole-genome landscape of more than 2,000 kidney disease patients. W. Zhang.

3313T    Genome-wide meta-analysis of susceptibility to idiopathic pulmonary fibrosis. R.J. Allen.

3314F    Gene prioritization in kidney function associated loci through systematic colocalization with gene expression. K.B. Sieber.

3315W    Using human genetics to identify a novel biomarker for idiopathic pulmonary fibrosis. A. Cerani.

3316T    Towards precision medicine management of vitamin D inadequacy. K.E. Hatchell.

3317F    A weighted genetic risk score of 279 signals discovered in individuals of European descent is associated with impaired lung function and chronic obstructive pulmonary disease in multiple ancestries. A.L. Guyatt.

3318W    Defining phenotypes with non-ignorable missingness on the basis of heritability: Application to lung disease in cystic fibrosis. S.O. Kim.

3319T    Copy number polymorphism on Y chromosome and adult height: The gr/gr deletion does not contain the Y-specific growth gene. A. Hattori.

3320F    Identification of CpG sites as mediators for genetic influence on osteoporosis by Mendelian randomization. F.T. Yu.

3321W    A genome-wide association study of bone mineral content and bone mineral density of multiple skeletal sites in Hispanic children. R. Hou.

3322T    Identification of putative causal genes regulating hip bone mineral density using tree-based methods. X. Meng.

3323F    HLA-DQB1*03:01 as a biomarker for genetic susceptibility to bullous pemphigoid induced by DPP-4 inhibitors. T. Ozeki.

3324W    ABCA7 and ancestry-aware association study for Alzheimer disease in Puerto Ricans. K. Celis.

3325T    Development of a polygenic risk score for Alzheimer's disease using a Bayesian hierarchical model. S.P. Dickson.

3326F    Shared causal paths underlying Alzheimer’s disease and type 2 diabetes. Z. Hu.

3327W    Constrained instruments and their application to Mendelian randomization with pleiotropy. L. Jiang.

3328T    Searching for the causal effects of genetic variants for Alzheimer’s disease in UK Biobank. R. Korologou-Linden.

3329F    Genome-wide association analysis identifies novel Alzheimer disease candidate risk loci for African-Americans. B.W. Kunkle.

3330W    Genome-wide rare variant imputation in 60,178 subjects identifies novel rare variant candidate loci in Late-Onset Alzheimer’s Disease (LOAD): The International Genomics of Alzheimer’s Project (IGAP). A.C. Naj.

3331T    A new powerful co-localization test. W. Pan.

3332F    Genome-wide association of plasma tau levels in the Framingham study. C. Sarnowski.

3333W    African American whole exome sequencing suggests risk coding variants in IDH1 gene. P. Whitehead.

3334T    Correcting for confounding from batch effects and genotype imputation with whole genome sequence data: Application to the ADSP family sample. E.M. Wijsman.

3335F    Genetically-informed association analysis identifies risk factors for late-onset Alzheimer’s disease. D. Yan.

3336W    A genetic epidemiological study for rare spinocerebellar degeneration based on whole exome sequencing analysis in the Japanese population. Y. Hama.

3337T    A third linear association between Olduvai (DUF1220) copy number and the severity of the classic symptoms of inherited autism. J.M. Davis.

3338F    Analysis of APOE and known depression SNPs in patients with multiple sclerosis. S.W. Brugger.

3339W    Transcriptomic analysis in multiple system atrophy (MSA). C. Bleul.

3340T    Genome-wide association studies of brain structure and function in the ~20,000 UK Biobank participants. K.J. Sharp.

3341F    Replication of the SCFD1 associated locus in ALS using linear mixed models. A. Nicolas.

3342W    A factor analysis of early stressful life events identifies evidence for G-E interaction in multiple sclerosis. M.K. Horton.

3343T    Analysis of predicted loss of function variants in MSSNG identifies potentially causative variants in autism spectrum disorder. B. Przychodzen.

3344F    Genome-wide association analysis of excessive daytime sleepiness in the UK Biobank identifies 42 loci. R. Saxena.

3345W    Pathway signal detection analyses with an application to amyotrophic lateral sclerosis. MQ. Zhang.

3346T    The influence of puberty on risk of multiple sclerosis: A Mendelian randomization study. A. Harroud.

3347F    Regional collapsing of rare variation implicates specific regions in known and novel ALS genes. S. Gelfman.

3348W    Associations between hematologic laboratory values and multiple sclerosis subtypes. J.M. Miller.

3349T    Optimal and data-adaptive p-value combination tests with applications in omics data analysis. Z. Wu.

3350F    Bivariate causal discovery and its applications to gene expression and imaging data analysis. R. Jiao.

3351W    Polygenic risk score analysis of antidepressant response in major depressive disorder in the STAR*D study. W. Guo.

3352T    Selecting best polygenic risk scoring method based on the features of a study. A.A. Shabalin.

3353F    Prioritizing risk genes for neurodevelopmental disorders using pathway information. T. Nguyen.

3354W    Methods for estimating covariate effects on 5hmc methylation: A proposed method and a comparison. C.M.T. Greenwood.

3355T    Environmental factors are often heritable. Does this bias polygenic gene-by-environment interaction analyses? W.J. Peyrot.

3356F    Genome-wide association study of amphetamine related stimulant dependence risk variants. J.W. Cox.

3357W    Identifying sub-phenotypes from hidden structure in polygenic SNP scores. J. Yuan.

3358T    Inferring association between trait and single protein/protein pathways based only on GWAS summary statistics. S. Bacanu.

3359F    Significance testing for allelic heterogeneity. Y. Deng.

3360W    GAMBITS: An improved method for genetic association testing of symptom and questionnaire data in psychiatric genetic studies. A.M. Holleman.

3361T    Life is pain: Fibromyalgia as a nexus of multiple liability distributions. A. Moscati.

3362F    Describing the genetic architecture of psychiatric disorders from population scale genealogies. A.J. Schork.

3363W    Paternal age, birth order, and early-onset in sporadic schizophrenia cases. S. Wang.

3364T    Association of genetic profile for substance abuse potentials and urinary illicit drug detections. T.J. Nappi.

3365F    Integration of mQTL data and enhancer-promoter interactions with GWAS summary results identifies novel schizophrenia-associated genes. C. Wu.

3366W    Examining X chromosome associations in sex-specific characteristics of bipolar disorder. W.A. Jons.

3367T    CNV association with neurodevelopmental phenotypes in a Finnish population cohort. E.C. Saarentaus.

3368F    Excess of rare, inherited variation in children with developmental disorders. K.E. Samocha.

3369W    A multi-trait GWAS meta-analysis on refractive errors. M.S. Tedja.

3370T    Evidence for rare variants linked to myopia in Amish families. J.E. Bailey-Wilson.

3371F    Gene-based analysis with multiple longitudinal glaucoma related phenotypes shows evidence for genetic factors in primary open angle glaucoma progression. A. Athanas.

3372W    Rare variants associated with age-related macular degeneration in the Amish. A.R. Waksmunski.

3373T    Selecting causal risk factors from high-throughput experiments using multivariable Mendelian randomization. S. Burgess.

3374F    Association of variants on the X chromosome with age-related macular degeneration. M. Grunin.

3375W    Discovery of three novel risk loci for age-related macular identification by genome-wide association analysis of data from the VA Million Veteran Program. R.P. Igo.

3376T    Disorders of sexual differentiation, the implications of life at early diagnosis: Clinical case presentation of true hermaphroditism in a male XY. F. Cuellar Lopez.

3377F    Association of low-frequency variants in regulatory regions with non-syndromic orofacial clefts. J.R. Shaffer.

3378W    An evaluation of mating asymmetry estimation. J. Hudson.

3379T    Maternal and child folate pathway gene-environmental interaction effects on orofacial clefts. M.C. Tsai.

3380F    Association between distance from hospital birth and patient’s home with morbimortality outcomes in Bogotá and Cali in years 2015 - 2016. C. Tovar-Sánchez.

3381W    Association between prevalence of Down syndrome and maternal ages in the cities of Bogotá and Cali, Colombia in the years 2001-2018. C.M. López-Burbano.

3382T    Perinatal mortality associated with congenital anomalies of the central nervous system in Colombia from 2005 to 2014. M. Sierra.

3383F    Changing frequencies of the main autosomal trisomies in the NIPT era: Population-based data from the Czech Republic. A. Sipek Sr.

3384W    Associated anomalies in cases with anorectal anomalies. C. Stoll.

3385T    Polygenic risk score predicts mild cognitive impairment and Alzheimer’s disease significantly better than APOE in ADNI dataset. G. Leonenko.

3386F    Genome-wide causal studies on Alzheimer’s disease. H. Qin.

3387W    Change the paradigm of genetic studies of multiple traits from association analysis to causation analysis. T. Xu.

3388T    Martingale residuals of Cox model reveal genomic associations with lifespan. P.K. Joshi.

3389F    Gene methylation co-regulation network analysis of mortality in the elderly. J.B. Lund.

3390W    Association of APOE haplotype with cognitive function in a healthy elderly cohort. M. Riaz.

3391T    Integrative network analysis identifies relationships between metabolomics, genomics, and risk factors for Alzheimer’s disease. B.F. Darst.

3392F    Inferring the rate of aging from quantitative traits using machine learning methods. J. Ding.

3393W    Testing for pleiotropy using functional linear regression: An application with neurodegeneration endophenotypes. A.J. Dugan.

3394T    A fast family-based quantitative trait association test for nuclear and extended pedigrees for the analysis of whole genome sequence data. Z. Zhang.

3395F    Fine-mapping and colocalization at the IL1RL1 locus to identify asthma susceptibility effector genes. S. Ghosh.

3396W    Constructing homogeneous subgroups for phenome-wide association studies via the K-means algorithm. A.R. Hsieh.

3397T    Replication of prior GWAS catalog variants within the eMERGE Network PGRNseq Cohort. I.B. Stanaway.

3398F    Gene-based kernel machine test for longitudinally measured binary phenotype. W. Wu.

3399W    Application of ComPaSS-GWAS to genome-wide association analysis of methylmalonic acid concentration, serum vitamin B12 concentration and holo-transcobalamin in the Trinity Student Study population. C.M. Justice.

3400T    Unravelling genetic regulation of Immunoglobulin G N-glycosylation and its involvement in complex traits and diseases. L. Klaric.

3401F    Leveraging functional enrichment improves polygenic prediction accuracy. C. Marquez Luna.

3402W    Identity-by-descent mapping in a large electronic health record-linked DNA biobank. L.E. Petty.

3403T    ComPaSS-GWAS reduces the type I error rate of a quantitative trait GWAS when the normality assumption of regression residuals is violated. J.A. Sabourin.

3404F    Estimating the autocorrelation of causal SNP effect size magnitudes as a function of genomic distance. A.P. Schoech.

3405W    Using identity by descent to improve genotype imputation. M. Abney.

3406T    Estimating and accounting for unobserved covariates in high dimensional correlated data. C.G. McKennan.

3407F    On performing gene expression imputation and gene-level association analysis in multiethnic or admixed populations. A.I. Konkashbaev.

3408W    The susceptibility of genome-wide association studies to recent fine-scale population structure. K.A. Rand.

3409T    Selection and cis-epistasis in human transcriptome biology. A.B. Faucon.

3410F    Mixed-linear model adjustment recalibrated with LD structure improves statistical power for the detection of significant ieQTLs. N. Patel.

3411W    Genetic regulation of transcriptional response in African American hepatocytes upon multiple drug treatments. M. Perera.

3412T    The impact of smoking on BMI depends on your genome. C. Amador.

3413F    Phenome-wide analyses of pharmacomimetic variants in their genomic context: New opportunities for genetic validation of therapeutic targets in UK Biobank. J.D. Hoffman.

3414W    HLA association in Chronic Fatigue Syndrome/Myalgic Encephalopathy (CFS/ME) implicating the involvment of the immune system. A. Lande.

3415T    Integrative genomic analysis of pulmonary function leveraging eQTL resources from lung and whole blood. J.N. Nguyen.

3416F    Gene-based rare variant association tests for ancestry-matched case-control data. C. Wang.

3417W    Using maximal segmental score to estimate region-specific p-values in sequencing data for recessive diseases. C.C. Chang.

3418T    Medium-coverage DNA sequencing in the design of the genetic association study. C. Xu.

3419F    Genetics and nicotine dependence: Heaviness of smoking index in European individuals. C. Batini.

3420W    Universal Control Repository: A practical framework for aggregating control genotype data. D. Chen.

3421T    Correcting index event bias in genome-wide association studies of prognosis or survival. F. Dudbridge.

3422F    Genetic associations with sleep apnea in a European population. Y. Huang.

3423W    Genetic associations to gut microbiome variation in the Flemish Gut Flora Project. D.A. Hughes.

3424T    Genome-wide association study of longitudinal change in quantitative emphysema. W. Kim.

3425F    Three novel loci were identified for plasma acylcarnitine levels and their ratios in genome-wide association study. H. Li.

3426W    Genome-wide association study in 400k individuals identifies 139 novel signals of association with lung function highlighting pathways and pleiotropy. N. Shrine.

3427T    Impact of ancestral variation in the levels and genetics of n-3 and n-6 long chain polyunsaturated fatty acids in distinct Hispanic subgroups. C. Yang.

3428F    Genetic correlation between polypoidal choroidal vasculopathy and age-related macular degeneration. Q. Fan.

3429W    Genome-wide haplotype association studies: Comparison of novel methods. B. Laabs.

3430T    Leveraging biological pathways and gene networks to understand the genetic architecture of diseases and complex traits. S.S. Kim.

3431F    Previously ignored high-frequency common variants greatly contribute to heritability of a common disease. Y. Nagao.

3432W    Reconciling S-LDSC and LDAK models and functional enrichment estimates. A.L. Price.

3433T    Distinguishing maternal and fetal contribution to the heritability – a novel approach for complex pregnancy and early fetal phenotypes. A.K. Srivastava.

3434F    Assessment of genome-wide significance of conditionally independent signals. S. Ghasemi.

3435W    A GWAS and candidate gene study for maternal nondisjunction of chromosome 21. J.M. Chernus.

3436T    Dissecting the causal relationship between maternal phenotypes and birth outcomes: A genetic score analysis in mother/infant pairs. J. Chen.

3437F    Exploring the effect of parental height on a newborn’s birth weight. Y. Lee.

3438W    Examining the role of reverse causality in Mendelian randomization. S.M. Lutz.

3439T    A Mendelian randomization study detects the distortive effects of health-related traits on food frequency questionnaire responses. C. McDonnell.

3440F    Phenome-wide Mendelian randomization study mapping the influence of the plasma proteome on complex diseases. J. Zheng.

3441W    One stop shop for X-inclusive whole-genome association scans. L. Sun.

3442T    A genome wide association study on next-generation sequencing profiled plasma miRNA levels. M. Roux.

3443F    The influence of mitochondrial DNA variation on complex traits. E.J. Grzeszkowiak.

3444W    The genetics of food and drink consumption and correlation with health-related traits. N. Pirastu.

3445T    Hepatic gene expression and DNA methylation associates with African ancestry: Uncovering the role of the genome in disease disparities in African Americans. C.S. Park.

3446F    NAT2 genetic variants and toxicity related to anti-tubercular agents: A systematic review and meta-analysis. M. Richardson.

3447W    The composite kernel association test (CKAT) for genetic biomarker analysis in pharmacogenetics studies. J. Shen.

3448T    HCLC: A novel statistical method for phenome-wide association studies. X. Liang.

3449F    Reducing the blind spots in target validation, examples from UK Biobank. L.M. Yerges-Armstrong.

3450W    Investigating fine-scale population structure in the UK biobank. J.P. Cook.

3451T    Genetic clusters and population stratification in the Estonian Biobank and the association with complex traits. K. Fischer.

3452F    Extensive fine-scale population structure in the UK Biobank. S. Hu.

3453W    Existence and implications of ancestry-dependent phenotypic variance. S. Musharoff.

3454T    Functional characterization of 3D-protein structures informed by human genetic diversity. I. Bartha.

3455F    A unified method for rare variant analysis of GxE interactions with application to GxSmoking interactions on obesity-related traits. E. Lim.

3456W    Enabling cost-effective multi-sample single cell RNA-seq studies via in-silico demultiplexing and doublet detection without external genotype data. T.H. Yao.

3457T    MMP3 gene variant is a promising biomarker for periodontal disease among Hispanics. V. Navarrete.

3458F    Two-phase sampling designs for post-GWA fine-mapping studies: Optimality criteria. O. Espin-Garcia.

3459W    Detection of genetic similarities using unsupervised random forest. C.J.K. Fouodo.

3460T    Genetic risk scores for COPD: Identifying high risk individuals and understanding disease pathways. P. Sakornsakolpat.

3461F    Sequential testing of multivariate phenotypes associated with SNP-sets by mixed model kernel statistics. D.J. Schaid.

3462W    Incorporating genetic networks into case-control association studies with high-dimensional DNA methylation data. H. Sun.

3463T    Co-localization analyses provide counterintuitive findings: Application to cystic fibrosis lung disease. F. Wang.

3464F    A general statistic to test an optimally weighted combination of common and/or rare variants in association studies. J. Zhang.

3465W    Predictive modeling of gene expression in admixed populations. A.V. Mikhaylova.

3466T    The intersection of genetics and longitudinal survey data from the health and retirement study: A preliminary study of glaucoma. J.N. Cooke Bailey.

3467F    Identifying hidden ancestries in publicly available summary genetic data. A.E. Hendricks.

3468W    KIBAG -- KIR genotype imputation with attribute bagging. S. Khor.

3469T    A novel association test for joint analysis of multiple phenotypes using conditional CUR. Q. Sha.

3470F    Leveraging allele-specific expression to refine fine-mapping for eQTL studies. J. Zou.

3471W    An integrated analysis tool for big genomic data from biobanks. H.C. Yang.

3472T    Hi-C deconvolution via joint modeling of bulk and single-cell Hi-C data. R. Huh.

3473F    Why cross-study common controls are hard---and what can we do about it? S. Buyske.

3474W    High dimensional stratified LD score regression. R. Cui.

3475T    A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed framework. M. LeBlanc.

3476F    Epigenetics-prioritized imputation of gene expression identifies more tissue-specific disease genes. W. Liu.

3477W    Estimating genetic effect size from top-ranking genome-wide association statistics to remedy the winner's curse. D. Zaykin.

3478T    VikNGS C++ Tool for sequence-based association testing enabling consortium research: Updates and applications. Z. Baskurt.

3479F    GASPOR: Detecting gene-level allele-specific expression in a population by RNA sequencing. J. Fan.

3480W    Fast and robust ancestry inference using principal component analysis. D. Zhang.

3481T    Kernel association test for rare copy number variants using CNV intensity profiles. A. Brucker.

3482F    Enrichment of survey responses by genetic community within a large genetic genealogy database. E.P. Sorokin.

3483W    Imputed gene associations identify replicable trans-acting/target gene pairs and suggest a larger trans than cis contribution to complex trait architecture. H.E. Wheeler.

3484T    Discovery of novel hepatic eQTLs in African Americans: Disparities in precision medicine. Y. Zhong.

3485F    Robust and powerful analysis of gene-environment interactions using polygenic risk scores in case-control studies. N. Chatterjee.

3486W    Reconstruction of patterns of cryptic relatedness and identification of the resulting shared genomic segments in a large electronic health record-linked DNA biobank. H-H. Chen.

3487T    Exome-chip association study of refractive error in U.S. Caucasians. D.D. Lewis.

3488F    Robust region-based test for unbalanced case-control phenotypes. Z. Zhao.

3489W    Haplotype-based GRMs complement SNP-based GRMs in a regional heritability analysis of complex traits. R.F. Oppong.

3490T    Kids First Data Resource Center: Advancing genetic analyses of structural birth defects and childhood cancer. D.M. Taylor.

3491F    Refining fine-mapping: Effect sizes and regional heritability. C. Benner.

3492W    A regression-based framework for large-scale integration of pathway knowledge in GWAS. S. Bhattacharjee.

3493T    Revisiting the genome-wide significance threshold. Z. Chen.

3494F    Efficient and accurate estimation of genotype odds ratios in biobank-based unbalanced case-control studies. R. Dey.

3495W    Harmonizing genetic ancestry and self-identified race/ethnicity (HARE) for genome-wide association study in the Million Veteran Program. H. Fang.

3496T    Genotype-covariate correlation and interaction disentangled by a whole-genome multivariate reaction norm model. S.Hong Lee.

3497F    A meta-analysis method to detect pleiotropic loci of correlated traits. C.H. Lee.

3498W    Prioritizing variants and reducing false positive associations in GWAS. K. Lin.

3499T    Probabilistic fine-mapping of transcriptome-wide association studies. N. Mancuso.

3500F    Power and sample size calculations for genetic association studies in the presence of genetic model misspecification. C.M. Moore.

3501W    Drugs for specific diseases tend to target genes whose expression is causally linked to those diseases. S. Rüeger.

3502T    Genetic and genomic stability across lymphoblastoid cell line expansions. L. Scheinfeldt.

3503F    Gene hunting with hidden Markov model knockoffs. M. Sesia.

3504W    LabWAS: Study designs and novel findings from a meta-analysis of quantitative lab values from independent health systems. J.S. Weinstock.

3505T    Bivariate logistic Bayesian LASSO for finding genetic association with two correlated phenotypes. X. Yuan.

3506F    Implications of post-colonial demographic structure on interpretations of association analyses. M. Zhang.

3507W    On set-based association tests: Insights gained from a regression, based on summary statistics. Y. Zhao.

3508T    Statistical power in GWAS revisited: Sample size, genetic relatedness, and gene-by-environment interactions. A. Ziyatdinov.

3509F    Joint analysis of multiple phenotypes using a clustering linear combination method based on hierarchical clustering. X. Li.

3510W    Heritability estimates in admixed populations from Greenland. G. Athanasiadis.

3511T    RSSp: An effective method for estimating the heritability of polygenic traits using GWAS summary statistics. N.W. Knoblauch.

3512F    Reliable heritability estimation in admixed populations using covariate-adjusted LD score regression. X. Li.

3513W    Extending SNP-based heritability analysis: How many variants show strong effect in a GWAS. F. Takeuchi.

3514T    Heritability and genetic correlation analysis of biobank data. Y. Wu.

3515F    Relatedness disequilibrium regression estimates heritability without environmental bias. A.I. Young.

3516W    SOS: Are genotype-based association tests robust to departure from Hardy-Weinberg equilibrium? L. Zhang.

3517T    A general framework for estimating the effects of molecular mechanisms on complex traits. K.S. Burch.

3518F    Finding rare variants of large effect using identity-by-descent mapping. S. Shringarpure.

3519W    Prenatal diagnostics of congenital anomalies in assisted reproduction pregnancies: Population-based data from the Czech Republic. A. Sipek Jr.

3520T    Machine learning of causal biological networks with the principle of Mendelian randomization. M.B. Badsha.

3521F    Heterogeneity of causal estimates inferred from single genetic variants as instrumental variables in Mendelian randomization across complex traits and diseases. A. Dobbyn.

3522W    Bayesian variable selection for Mendelian randomization. A. Gkatzionis.

3523T    Accounting for confounding in Mendelian randomization using genome wide summary statistics. J. Morrison.

3524F    Leveraging genome-wide significant loci to increase the power of S-LDSC to detect enrichment. K. Tashman.

3525W    Robust method for inferring genetic relationship across studies without compromising privacy. X. Zhao.

3526T    Identifying associations between genetic variants and microbiome community diversity using kernel methods. M.C. Wu.

3527F    FinnGen: Towards a comprehensive catalogue of genomes and major health events for 500,000 Finnish residents. J. Karjalainen.

3528W    Polygenicity varies with allele frequency and functional category due to negative selection. L.J. O'Connor.

3529T    A robust unified test for Hardy-Weinberg equilibrium in arbitrarily structured populations. A. Kwong.

3530F    Spatially-dense 3D facial heritability and genetic correlations in a heterogeneous sample. J. Li.

3531W    Accounting for sub-phenotyping in rare variant association tests. E. Genin.

3532T    A survey of integrating age-at-onset genetics for predicting the age-specific disease risk. C. Tian.

3533F    Importance of protected statistical testing and replicate number in RNA-sequencing studies. R.Z. Blumhagen.

3534W    Classification of cell type from single-cell RNA sequencing data by deep neural networks. C. Lou.

3535T    Robust adjusted profile likelihood ratios for the analysis of differential gene expression. L. Zhong.

3536F    Deconvolution of bulk tissue cell type proportions from single-cell RNA-seq. X. Wang.

3537W    Impact of genotype imputation on genome-wide meta-analysis: To aggregate or to eliminate? E.F. Acar.

3538T    A method to estimate the sampling variance of genotype principal components and residual confounding due to incomplete capture of population structure. C. Chen.

3539F    General retrospective mega-analysis framework for rare variant association tests. Y. Chiu.

3540W    A flexible linear mixed model for estimating heritability of categorical phenotypes. G. Darnell.

3541T    Sparse canonical correlation analysis (sCCA) significantly improves power of cross-tissue transcriptome-wide association studies (TWAS). H. Feng.

3542F    Improving gene expression prediction accuracy in transcriptome-wide association studies. J. Fryett.

3543W    Mapping multiple complex and omics trait-associations using summary statistics from correlated or independent samples. K.J. Gleason.

3544T    A semi-supervised approach for predicting cell type/tissue specific functional consequences of non-coding variation using massively parallel reporter assays, with applications to complex trait genetics. Z. He.

3545F    A universal and nearly optimal permutation testing approach and an application to association analysis of quantitative traits in whole-genome sequencing studies. J. Hecker.

3546W    Comparison of Mendelian randomisation and Bayesian network approaches for causal inference. R. Howey.

3547T    Controls: How large is too large? A survey of methods for optimal subsampling in large-scale case-control studies. Y. Jiang.

3548F    An analysis of the genetic overlap of 20 complex traits under a non-infinitesimal model. R.D. Johnson.

3549W    Leveraging variance QTLs in a twins cohort identifies epistatic interactions influencing gut microbiome composition. A.R. Marderstein.

3550T    Estimating differential networks in microbiome data: Penalized precision matrix estimation in a multinomial model. K. McGregor.

3551F    A selection operator for summary association statistics reveals allelic heterogeneity of complex traits. Z. Ning.

3552W    MRMix: A mixture model approach to robust and efficient Mendelian randomization analysis. G. Qi.

3553T    Genotype imputation using the pBWT. S. Rubinacci.

3554F    Accounting for cryptic relatedness across families between subjects with no genotype data. M. Saad.

3555W    Enrichment analysis in genome-wide association studies through modelling of effect-size distribution in relation to annotations and genomic propensity scores. A. Saha.

3556T    High-definition likelihood inference for heritability and genetic correlation using GWAS summary statistics. X. Shen.

3557F    A statistical framework to quantify shared genetic variability in de novo mutations for complex diseases. Y. Shi.

3558W    Joint analysis of GWAS summary statistics in East Asians and Europeans provides insights into population-specific and shared causal variants of complex traits. H. Shi.

3559T    Enhanced case-control association analyses leveraging family history. C.R. Solis-Lemus.

3560F    Building multi-predictor models of quantitative phenotypes from the Trinity Student Study with tiled regression. A.J.M. Sorant.

3561W    Heterogenous effects linear mixed model improves whole genome association testing in multi-ethnic populations: Applications to the TOPMed and PAGE Consortia. T.A. Thornton.

3562T    Genome-wide priors for gene prioritization. E. Weeks.

3563F    Simulation study of double FDR method on LD block structure in GWAS. J. Xu.

3564W    Dimension reduction and remedy for multicollinearity of DNA sequencing data using the lasso based clustering. Y.J. Yoo.

3565T    Thresholding Fisher’s p-value combination method (TFisher) for set-based genetic association studies. H. Zhang.

3566F    Genetic mapping of human diseases using gene damage scores. X. Zhu.

3567W    A Bayesian mixture model to accommodate multiple sources of uncertainty into transcriptome-wide association studies. J.D. Rosen.