Reviewers' Choice Abstracts
Genome Structure and Function
374T High-throughput functional genomic assessment of known and novel HNF1A missense variants to support clinical diagnostic interpretation. S. Althari.
431T Pervasive transcriptional dosage compensation buffers impact of autosomal structural variation. R.C. McCoy.
432F Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double-strand break incidence. C. Gilissen.
438F Predicting hotspots of Alu/Alu-mediated rearrangements in the human genome. X. Song.
Prenatal, Perinatal, and Reproductive Genetics
442W Ancestral disparities in genetic architecture of life course correlations between early growth and adulthood cardiometabolic disorders. F. Tekola Ayele.
456F Large-scale cytogenomic analysis of samples from conception to childhood: A comprehensive assessment of the landscape of unbalanced genomic abnormalities. T. Sahoo.
457W Perinatal features and genotype-phenotype correlations in a large cohort of 355 patients with Prader-Willi syndrome. V. Kimonis.
474F Uncovering novel cytogenetic and molecular etiologies for infertility. S.L.P. Schilit.
490W Revealing transcriptome and methylome landscapes in a human oocyte by parallel sequencing. T. Lee.
496W FXPOI: Modifying factors may play a larger role among the most vulnerable mid-range premutation group of women. E.G. Allen.
497T Novel application of fragile X CGG repeat analysis in a clinical setting: Outcomes and data derived from 716 embryos undergoing preimplantation genetic diagnosis (PGD). R. Cabey.
Genetic Counseling, ELSI, Education, and Health Services Research
502W MSH6 and PMS2 germline pathogenic variants implicated in Lynch syndrome are associated with breast cancer. M.E. Roberts.
503T Could population-level genomic screening be cost effective? An economic analysis informed by a large sequencing study. D.L. Veenstra.
527T Maternal origin of familial 22q11.2 deletions negatively impacts FSIQ scores. D.E. McGinn.
529W Earlier answers are better answers: Family-centered utility of genome-scale sequencing for children with intellectual disability. K.B. Brothers.
545T Fine-scale demography and behavior of male and female human geneticists. E. Glassberg.
550W Why patients decline genomic sequencing studies: Experiences from the CSER consortium. L.M. Amendola.
552F Sociodemographic influences on attitudes and beliefs about genetic research and services. P.L. Bussies.
555F Impact of personal microbiome information on research volunteers. C. Bloss.
558F Pharmacogenomic counseling: Exploring participant questions about PGx test results. T. Schmidlen.
587T Experience and specialty impact processes for interpretation and clinical application of genetic test results. C. Berrios.
610W WGS in pediatric neuroncology patients shows a preponderance of germline Mendelian disease gene mutations. M. Bainbridge.
713T Functional role of intragenic methylation in alternative splicing in cancer. Y. Lee.
722T Identification of germline copy number variations (CNVs) using targeted sequencing data on 6q in hereditary lung cancer families. D. Mandal.
742W Predictive, discriminative versus associated or prognostic biomarker? Comparisons of discriminant, predictive and association and network analysis methods for mass spectrometry data from ovarian cancer. Y. Liang.
749T Multiregion high-depth whole exome sequencing of matched primary and metastatic tumors revealed inter- and intra-individual genomic heterogeneity and polyclonal seeding in colorectal cancer metastasis. Q. Wei.
764T Developing validated phenotypic cancer cohorts for molecular stratification and susceptibility assessment, a use case: Patients diagnosed with early versus late stage non-small cell lung cancer. B.R. Johnson.
774F Fix-C: A novel experimental and computational method for structural variation detection and in silico long range phasing from FFPE tumor tissue. H.A. Costa.
787W Longitudinal integrative omics of rituximab treatment on primary B cells. L.R.K. Brooks.
802W HPV16 integrated genomic and molecular characterization of cervical cancer in Guatemala. H. Lou.
807F Functional characterization of a novel prostate cancer candidate gene at 2q37 in normal human prostate cell line. C. Cieza-Borrella.
814W Clinical relevance of non-coding A-to-I RNA editing in multiple human cancers. T. Gu.
841W NF1 mutation structure-function analyses using a full-length mouse cDNA. D. Wallis.
866T Increased expression of SLC26A9 delays age at onset of diabetes in cystic fibrosis. A. Lam.
875T Genomic characterization of F8 and F9 copy number variants in the My Life, Our Future TOPMed hemophilia cohort. M.M. Wheeler.
878T Factor (F)VIII gene mutation type and type of FVIII therapeutic influence the risk of developing neutralizing anti-FVIII antibodies independent of genetic relatedness, age, race, hemophilia A (HA) severity, therapeutic exposure days, and haplotype in HA patients of the PATH Study. T.E. Howard.
894F From genetics to therapy: CD55 loss of function leads to protein-losing enteropathy responsive to eculizumab. A. Kurolap.
911T Multi-center cohorts with animal model and genotype-phenotype analyses: deciphering a new and undefined subtype of congenital scoliosis, TBX6-associated congenital scoliosis (TACS). N. Wu.
915F Loss of inhibition of mTOR signaling in a new form of a metaphyseal chondrodysplasia due to a recessively inherited mutation in salt inducible kinase 3 (SIK3). F. Csukasi.
919W Gain of function germline mutations in ABL1 are associated with congenital heart defects, skeletal malformations, and failure to thrive. Y. Yang.
921F TMEPAI mutation causes MFS/LDS-like phenotypes in 2 Japanese families. H. Morisaki.
922W A distinct cutaneous blistering phenotype with multi-system manifestations caused by a mutation in CD151, the 20th causative gene in epidermolysis bullosa. H. Vahidnezhad.
928W Mutations in SULT2B1 cause autosomal recessive congenital ichthyosis in humans. L. Heinz.
936F Regulatory role of RNA chaperone TDP-43 for RNA misfolding and repeat-associated translation in SCA31. K. Ishikawa.
939F Expanded-(TGGAA)n-associated unconventional translation in spinocerebellar ataxia type 31. N. Sato.
945F Severity of GABBR2 mutations determines neurological phenotypes ranging from Rett-like syndrome to epileptic encephalopathy. Y. Yoo.
947T The novel aldehyde trap ADX-102 reduces accumulations of GHB and GABA in brain tissue from succinic semialdehyde dehydrogenase-deficient mice. S.G. Macdonald.
952W Large-scale systematic analysis of recessive neurodevelopmental disorders in consanguineous families. A. Gregor.
955W AOH-mediated recessive mutation burden can result in blended phenotypes. E. Karaca.
961W De novo missense variants in GNAI1 gene are associated with epileptic encephalopathy. M. Liao.
975F An integrated whole-genome, whole-transcriptome approach to genetic diagnosis in developmental and epileptic encephalopathies. A.M. Muir.
992T Integrative omics analysis of a cohort of 198 singletons with cerebral palsy. J. Gecz.
998T Mutations of the ZNF292 gene are a novel cause of neurodevelopmental disability, behavioral problems, and autism spectrum disorders (ASD). G. Mirzaa.
1009W Mitochondrial accumulation and increased lipid metabolism in a Dhtkd1Tyr486* knock-in mouse model of the CMT2Q neuropathy. M. Gu.
1015W Clinical features and the pathomechanism of early childhood-onset neurodegenerative encephalopathy arising from biallelic TBCD mutations. N. Miyake.
1024W Naturally occurring human genetic variation suggests LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease. I.M. Armean.
1035F Delineation of a new neurobehavioral syndrome associated with mutations in RFX3. H. Hodges.
1037T De novo TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological deficits with similarities to Smith-Magenis syndrome: Seven new cases further delineate the phenotypic presentation of this new syndrome. F. Vetrini.
1040T Novel de novo TAOK1 variants associated with a neurodevelopmental phenotype, macrocephaly, and joint hypermobility. H.M. McLaughlin.
1042W ARID4A de novo variants identified by exome sequencing among individuals with neurodevelopmental disorders. K.G. Monaghan.
1069W Engineering tissue specific delivery of enzymes for lysosomal disease treatment. K. Cygnar.
1081W Identification and validation of new hepatic biomarkers in methylmalonic acidemia (MMA). I. Manoli.
1085T Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: Rare novel disease genes and a multitude of novel variants in known disease genes. K. Van Schil.
1101F Genomic analysis of inherited hearing loss in the Palestinian population. A.I. Abu-Rayyan.
1108W Genetic characteristics of an international large cohort with Stargardt disease: The progression of atrophy secondary to Stargardt disease (ProgStar) study. K. Fujinami.
1132W Urine-derived podocytes-like cells: From a diagnostic to a CRISPR/Cas9 gene therapy perspective in Alport syndrome. A.M. Pinto.
1138W Truncating MAGEL2 mutations produce fetal lethality in mice and may recapitulate pathogenesis of Schaaf-Yang syndrome. Y. Negishi.
1146F De novo truncating mutations in X-linked MED12 are associated with Hardikar syndrome in females. D. Li.
1155F A genotype-first approach identifies genes contributing to variable phenotypic presentations in a Smith-Magenis Syndrome cohort. C. Zhang.
1158F De novo coding and noncoding variants in novel disease genes account for a significant fraction of isolated and complex congenital diaphragmatic hernia. H. Qi.
1163T Frequency of germline pathogenic variation in NF1 and eight other RASopathy genes in the Exome Aggregation Consortium (ExAC) database: A pilot study. A. Pemov.
1170F The genetic architecture of Bardet Biedl Syndrome. M. Kousi.
1172T An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease-gene discovery. A. Haghighi.
1173F Insights from applying ClinGen framework in evaluating the clinical validity of 30 published studies of gene-disease relationship of monogenic disorders. R. Attali.
1174W Evaluating the evidence available for associating genes of unknown significance (GUS) with disease phenotypes: Review of 100 studies. S. Tzur.
1176F Deep phenotyping for patients by patients: A lay-friendly version of the Human Phenotype Ontology. M.A. Haendel.
1179F Mouse models of human disease: How mouse model data can provide mechanistic insight into human disease etiology and development of therapeutics. M. Tomczuk.
Bioinformatics and Computational Approaches
1184T LabWAS: A catalog of real-world associations between genetic variants and lab values. J.A. Goldstein.
1189W Using automatic adipose measures from electronic health record based imaging data for discovery. E.D.K. Cha.
1192W The grid-interpolation algorithm: A novel approach for fast and efficient mixed model analysis of high-dimensional phenotype data. J.R. O'Connell.
1200F Finding NEMO: De novo mutation detection in the IKBKG gene. Z. Deng.
1217T Omics-based machine learning modeling of monogenic neurological diseases. J.A. Botía.
1226T Neuron-squared (N2): An industrial-scale iPSC disease-modeling project for neuropsychiatric disorders. R. Randhawa.
1227F Towards translating genetic findings of polygenic diseases to personalized drug development: Proof-of-concept study for drug combinations to target multiple genes. I.S. Vlachos.
1237W Comparison of different approaches to detect CNV from SNP genotyping array and whole-exome sequencing. B. Chaumette.
1251F Examining age, tissue, and genetic effects on RNA splicing with allele-specific resolution in a diverse mouse population. D.A. Skelly.
1255W A novel clustering model for droplet-based single cell transcriptomic data. W. Chen.
1277T Indexcov: Whole-genome coverage in <1 second per BAM. B.S. Pedersen.
1286T Bayesian multiple eQTL detection with control for population structure and sample relatedness. B. Zeng.
1287F Robust and accurate estimation of DNA sample contamination agnostic to genetic ancestry. F. Zhang.
1305F Quantification of transplant-derived circulating cell-free DNA in absence of a donor genotype. E. Sharon.
1309W Gene-based tests using imputed genotype dosages showed increased statistical power than using best-guessed genotypes. M. Hwang.
1318W Noninvasive reconstruction of fetal methylome by sequencing of maternal plasma DNA. K. Sun.
1322T Quickly determining subject ancestries in large datasets using genotypes of dbGaP fingerprint SNPs. Y. Jin.
1324W MVP: A deep neural network method of predicting pathogenicity of missense variants enables novel genetic discoveries. Y. Shen.
1359F A graph-based pipeline to evaluate common structural variations based on haplotypes and reassembly. S. Ji.
1361T High-performance whole genome sequence variant analysis in the TOPMed project using cloud environments. R. Kuraisa.
1383F Exploiting the co-localization of trait-associated SNPs and eQTLs to identify potential biological mechanisms underlying complex diseases. T. Xu.
1394T From quantity to quality: A population-based approach for building reference panel imputation. M. Cocca.
1405W CNVs in clinical WGS: Deployment and interpretation for rare and undiagnosed disease. A.M. Gross.
1425F Pioneering an efficient migration of 10,000 whole genomes: Catching up with the latest human genome assembly. S. Graf.
1427T A map of highly constrained coding regions in the human genome. J. Havrilla.
1430T Impact of polygenic risk on changes in biomarkers over time due to lifestyle intervention and aging. M. Conomos.
1432W Estimating the impact of allele specific expression on detecting genetic associations. J. Dannemiller.
1433T Unsupervised pattern discovery in noncoding variants enables identify their potential functional consequences. H. Yang.
1437F A survey of genetic variant frequency in 220,000 Han Chinese individuals. Z. Huang.
1447W OASIS: Omics Analysis, Search and Information System for biological discovery in whole-genome sequence and trans-omics datasets. J.A. Perry.
1452F Drug side effects and adverse events are predicted by genetics of their intended targets. P.A. Nguyen.
1453W PALMER: A novel pre-masking method for detecting mobile element insertions using long-read sequencing technology. W. Zhou.
1469T Modulation of Notch pathway in adult mouse airways by antisense oligonucleotides. T.R. Grossman.
1479F Reproducibility in iPSC omics: An international multicentre study. V. Volpato.
1480W Targeted enrichment without amplification and SMRT Sequencing of repeat-expansion disease causative genomic regions. T. Clark.
1511T Pathogenic variants that alter protein code often disrupt splicing. R. Soemedi.
1525W Chromosomal integration of libraries of full-length mutant genes with associated barcode tags. X. Jia.
Epigenetics and Gene Regulation
1544T Physical interaction in human beta-cells between islet eQTL sites and target gene promoters at loci associated with type 2 diabetes risk and glycaemic traits. J. Torres.
1547T Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome maps. F. Allum.
1551F Body mass index variant protects Mexicans from obesity through long intergenic non-coding RNA on chromosome 20q13.33. Y.V. Bhagat.
1555W Promoter capture Hi-C in primary human white adipocytes identifies an interaction hub at a Mexican lipid locus. K.M. Garske.
1562T An epigenome-guided approach to causal variant discovery in autoimmune disease. R.C. Pelikan.
1565T Integrative analysis identified pervasive long-range regulation mediated by super-enhancers shared in multiple autoimmune diseases. X.F. Chen.
1566F Cis regulatory variation determines dynamic HLA-DQB1 allelic expression in response to T cell activation. M. Gutierrez-Arcelus.
1594W Supplemental treatment for Huntington disease (HD) with miR-132 that is deficient in HD brain. M. Fukuoka.
1641F Single cell methylomes: A method to assess mammalian neuron diversity. L. Kurihara.
1647F Comprehensive functional annotation of the zebrafish genome. T. Liu.
1668F Identification of genetically associated changes in 3D-chromatin architecture by leveraging haplotype information across a three-generation family. W.W. Greenwald.
1676T Novel deep learning approaches reveal sophisticated epigenetic regulation in eukaryotes. Z. Wei.
1683F Identifying imprinted genes using parent of origin effects on gene expression in the Hutterites. S. Mozaffari.
1684W Efficient detection of trans-gene regulation via association with predicted gene expression. J.A. Mefford.
1686F Inter-individual variation in microbiome composition controls human gene expression. A.L. Richards.
1688T The landscape of short RNAs in human cell types and tissues. Y.Y. Leung.
Developmental Genetics and Gene Function
1716F A mutation in MAL is associated with a neurodevelopmental condition characterized by central hypomyelination, cerebellar atrophy and developmental delay. M. Elpidorou.
1718T Evolutionary conserved ARX-regulatory pathway in mammals and nematode to find a convergent druggable pathway damaged in neurodevelopmental disorders. L. Poeta.
1729W Investigation of synergistic interactions among genes in the 15q11.2-q13.1 region using Drosophila melanogaster. K.A. Hope.
1745T Changes of open chromatin regions reveal stage-specific transcriptional network dynamics in human iPSC-derived neurons. W. Moy.
1750W Comprehensive catalog of cell types in the developing brain using single-cell transcriptional profiling. J.M. Simon.
1757T Regulating transcriptional activity by phosphorylation of the intellectual disability and seizure associated ARX homeodomain transcription factor. C. Shoubridge.
1758F Molecular and biochemical analyses to understand the genotype-phenotype correlation in patients with the maternally inherited MELAS disorder. A. Gropman.
1773F Mutations in NAA10 and NAA15 are associated with a range of cardiac and neurodevelopmental phenotypes. G.J. Lyon.
1782F A mouse model of Proteus syndrome. M.J. Lindhurst.
Complex Traits and Polygenic Disorders
1803F Chromatin accessibility landscapes in adipose tissue and preadipocytes at cardiometabolic trait loci. K.W. Currin.
1804W Multivariate genome wide association study uncouples “favourable” from “unfavourable” adiposity alleles. Y. Ji.
1808T Glucose challenge metabolomics identifies C10- and C12-carnitines as possible contributors to insulin resistance. C. Nowak.
1810W Novel genetic determinants of diabetic kidney disease. R.M. Salem.
1815F Expanding the spectrum of type 2 diabetes risk alleles through a genome-wide association study imputed to the Haplotype Reference Consortium Panel. D. Taliun.
1819W Genetic factors influencing glycated hemoglobin, fasting glucose, and fasting insulin levels in the Population Architecture using Genomics and Epidemiology Study. H.M. Highland.
1822W Fine-mapping fasting glucose and fasting insulin loci with whole genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) Program. A. Manning.
1828W Trans-ethnic discovery of the genetic architecture of glycaemic control. C. Langenberg.
1836F Meta-analysis in 93,701 East Asians identifies new loci associated with type 2 diabetes. X. Sim.
1844T Causality links between gut microbiome and glucose/insulin metabolism and type 2 diabetes. S. Sanna.
1853T Contrasting the genetic architecture of human thinness and severe obesity. F. Riveros Mckay Aguilera.
1861W Regulatory activity and deletion of rs3780181 suggests a molecular mechanism at the VLDLR lipid GWAS locus. J. Davis.
1868T Novel genetic variants associated with lipid levels in a multi-ethnic population from the Population Architecture using Genomics and Epidemiology (PAGE) Study. Y. Hu.
1869F Genetic analysis of lipids in >300,000 participants in the Million Veteran Program. D. Klarin.
1872F Gender differences in genetics of body composition and obesity traits after an intensive exercise intervention. A.I. Vazquez.
1873W Evaluation of loss-of-function mutation in PCSK9 gene in large nationwide health registry based PheWas study in Finland. M. Alanne-Kinnunen.
1879W Common and rare genetic variants for asthma, hay fever and eczema. W. Ek.
1882W Mapping human airway smooth muscle cell transcriptional and epigenetic responses to asthma-promoting cytokines reveals enrichments for asthma-associated SNPs. E.E. Thompson.
1891W Transcription factors are associated with disease risk loci: Epstein-Barr virus nuclear antigen 2 (EBNA2) is an environmental factor associated with multiple autoimmune diseases. J.B. Harley.
1910T Transcriptome analysis of systemic lupus erythematosus reveals distinct susceptibility, activity and severity signatures. N. Panousis.
1935F Sex-specific transcriptional responses to lipopolysaccharide (LPS) in peripheral blood leukocytes (PBLs) in the Hutterite founder population. M. Stein.
1943T Location, location, location: Single cell gene expression of mucosal T cells vs peripheral blood T cells in Crohn's disease. E.A.M. Festen.
1944F Comprehensive bioinformatic characterization around RASGRP1 gene identifies multiple potential functional variants for lupus susceptibility. J.E. Molineros.
1953F Chronic obstructive pulmonary disease subtyping through multiple -omics data integration. B.D. Hobbs.
1963W 101 novel loci and novel associations with gene expression detected in transethnic genome-wide study of estimated glomerular filtration rate in over 270,000 participants: The Million Veteran Program. A.M. Hung.
1984W Osteoporosis-associated risk variant in distal enhancer at 1p36.12 regulates expression of long noncoding RNA through long-range loop formation. Y. Guo.
1986F PheWAS meta-analyses on bone microarchitecture phenotypes assessed by HR-pQCT and CRISPR/Cas9 gene-editing in zebrafish identify novel genetic risks of osteoporosis and fractures: The Bone Microarchitecture International Consortium (BoMIC). Y.H. Hsu.
1988T The genetic architecture of osteoarthritis: Insights from UK Biobank. E. Zeggini.
2011W Performance of a genetically-based biomarker risk algorithm for an Alzheimer’s disease prevention screening study. M.W. Lutz.
2012T Novel Alzheimer disease loci identified in subsets of whole exome sequencing data stratified by APOE genotype. Y. Ma.
2028F Genomic and functional evaluation of the role of the TNFSF14-TNFRSF14 pathway in susceptibility to multiple sclerosis. M. Zuccala'.
2077W MAPK3 identified as candidate gene influencing schizophrenia and BMI in the 16p11.2 CNV region. L. Davis.
2081T Discovery of multifaceted genomic features as a promising approach to novel autism risk gene identification. Y. Ji.
2099T A genome-wide association study reveals a novel locus significantly associated with ADHD in African Americans and replicating in ADHD cases of European ancestry. B. Almoguera.
2100F Using genetic diversity from East Asia to improve the biological insight into schizophrenia. H. Huang.
2108T Exome sequencing study of bipolar disorder in a genetically isolated population. L. Hou.
2110W Genome-editing of the RERE super-enhancer alters expression of genes in independent schizophrenia GWAS regions. C. Barr.
2121F Common genetic variation contributes to risk of severe developmental disorders. M. Niemi.
2127F Major depressive disorder and nausea and vomiting during pregnancy. Shared genetic factors? L. Colodro Conde.
2143W A study of subthreshold hallucinatory experiences and thier relationship to genetic liability for schizophrenia. H. Young.
2156T Using electronic health records for the identification of novel genes associated with adverse drug reactions. L. Milani.
2171T Forty novel genetic loci associated with intraocular pressure in a large multi-ethnic genome-wide association study. H. Choquet.
2186T Identification of 16q21 as a modifier locus for orofacial cleft phenotypes. E.J. Leslie.
2190F CRISPR/Cas9 engineering to generate an isogenic model of the 3-Mb 22q11.2 syndromic deletion. Y.T. Lin.
2195T Whole-exome analysis of late-onset Alzheimer’s disease reveals novel candidate genes involved in cognitive function. C. Preuss.
2207T Telomere length across many human tissues. K. Demanelis.
2212W Disease associations of the zinc receptor GPR39 in the DiscovEHR Study cohort. G.E. Breitwieser.
2219T Performance of polygenic scores across ancestrally diverse populations. L. Duncan.
2220F Two novel loci detected and 10 known loci confirmed for estimated glomerular filtration rate in over 56,000 African Americans: The Million Veteran Program. T.L. Edwards.
2257W Phenotypic consequences of the genetic regulation of expression of the Mendelian disease gene CFTR. X. Zhong.
2267T A broad survey of the relationship between autozygosity and fitness-related and sociodemographic traits in the UK Biobank. E.C. Johnson.
2271F Rare coding variant association analysis for anthropometric traits using more than 25,000 exome-sequenced samples from ExAC. S. Vedantam.
2277F Examining sex differences in genetic effects on subcortical brain structures. K. Grasby.
2279T Drug target genes associated with clinical phenotypes in the genetically isolated population of Finland are more likely to succeed in pharmaceutical development. R. March.
2280F Transferability of polygenic risk prediction across diverse and admixed populations. A.R. Martin.
Evolution and Population Genetics
2295F Detect co-evolution of genes in admixed populations with genome-wide data. M. Zhou.
2310F Discovering rare variants and deciphering a population structure of 386 Mongolian individuals by whole-genome sequencing. C. Kim.
2322F Using ancient DNA from Sardinia to assess population stability from the Neolithic to present. J. Marcus.
2336T Adaptive eQTLs in human populations. M. Quiver.
2337F A comparative study of endoderm differentiation in humans and chimpanzees. L.E. Blake.
2347W Partitioning heritability of low-frequency variants reveals relative strength of negative selection across functional annotations. S. Gazal.
2351T Substantial fraction of genes under recessive selection illuminates a missing component of human variation in population genetics and model organism studies of human disease. D.J. Balick.
2354T Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans. S. Zöllner.
Molecular and Cytogenetic Diagnostics
2371W Paperwork matters! The importance of clinical phenotype information in variant interpretation. M. Anderson.
2388F Use of functionally classified 207 BRCA2 missense variants to calibrate sequence-based computational prediction models. H. Shimelis.
2411T Mate-pair sequencing provides advanced molecular characterization of genomic rearrangements in B-Chronic Lymphocytic Leukemia (CLL) and non-Hodgkins lymphoma. S.S. Smoley.
2418F Tumor characteristics provide evidence for mismatch repair (MMR) variant pathogenicity. S. Li.
2423T Involvement of mtDNA variants in patients with cardiac manifestation. H. Cui.
2440W Novel pathogenic variants are routinely detected even in extensively-sequenced genes, such as CFTR. N. Faulkner.
2448F Detection of mosaic copy-number variation from whole-exome sequencing using XHMM and custom SNP approach. A. Sorlin.
2449W Diagnosing connective tissue disorders by clinical exome sequencing. H. Cheng.
2463F Diagnostic yield for neurological and neuromuscular disorder testing via high-depth multi-gene panel analysis with integrated sequence and copy number detection. T. Winder.
2467W A novel approach distinguishing the SMN1 and SMN2 genes in spinal muscular atrophy (SMA) using a linked-read NGS custom panel. R. Pellegrino.
2470W Attacking a VUS from multiple angles: An integrated and functional approach for reclassifying variants of uncertain significance. R.N.T. Lassiter.
2478F Diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. C. Lowther.
2483T Whole genome sequencing of neurodevelopmental disorders in Japanese. C. Abe-Hatano.
2485W Unravelling structural chromosomal rearrangements by whole genome sequencing: Results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations. D. Sanlaville.
2495T Reanalysis of whole exome and genome data leads to new diagnoses in children with intellectual disability and developmental delay. C.R. Finnila.
2500W Diagnostic testing using capture-based NGS reveals a high rate of mosaicism in genes associated with neurodevelopmental disorders. D. McKnight.
2511F Expert specification of the ACMG/AMP variant interpretation guidelines and application of the ClinGen gene curation framework to genetic hearing loss. A. Abou Tayoun.
2512W A comprehensive resource and guideline for the development and validation of exome-based panels for clinical laboratories. R. Niazi.
2519T Constitutive supernumerary marker chromosomes are the chromothripsis remnant of the supernumerary chromosome present in trisomic embryos. N. Kurtas.
2534T Application of next generation sequencing in NICU experiences from a 1239-patient pilot study. W. Zhou.
2540T AMELIE accelerates Mendelian patient diagnosis directly from the primary literature. J. Birgmeier.
2559F Covering all the bases: Case vignettes and diagnostic pipelines at the Stanford Center for Undiagnosed Diseases. A.M. Dries.
2567T Correctly building, evaluating and using clinical grade pathogenicity classifiers for variant of unknown significance. G. Bejerano.
2576T Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map. E.R. Riggs.
2584W New systematic rubric for clinical interpretation of copy number variants (CNVs) improves interpretation consistency across laboratories. D. Pineda Alvarez.
2586F Clinical variant reclassification and scaling support for the return of updated genetic results. H.L. Rehm.
2591T Towards automated variant pathogenicity assessment: A Bayesian classification framework. L.G. Biesecker.
2615T High incidence of SCN5A c.5350 G>A (p.Glu1784Lys) heterozygotes and prolonged QT intervals in a large biobank cohort. M.L.B. Schwartz.
2635W Novel genetic associations for blood pressure identified via gene-alcohol consumption interaction in about 570K individuals. M.F. Feitosa.
2639T Identifying and characterizing causal genes in GWAS-identified loci for heart rate variability using high-throughput, image-based screens in zebrafish larvae. B. von der Heyde.
2640F Combining Mendelian genetics and genetic epidemiology identifies APOL3 as a new gene for abdominal aortic aneurysm. J.M. Albuisson.
2642T Genome-wide association study of congenital heart disease in the UK Biobank. A. Córdova-Palomera.
2651T Genome wide association study identifies nine novel loci for subclinical atherosclerosis traits and highlights genetic correlation with clinical cardiovascular disease. N. Franceschini.
2652F 66 novel loci detected in a trans-ethnic genome-wide association study of blood pressure in over 440,000 participants from the Million Veteran Program and UK Biobank. A. Giri.
2681T A novel LDL-lowering missense variant in B4GALT1 identifies novel biological connection between protein glycosylation and cardiovascular risk factors in human. M. Montasser.
2685F Genome-wide association study reveals novel genetic markers associated with chlorthalidone blood pressure response. S. Singh.
2731W Genetic variants in familial abdominal aortic aneurysms identified by whole genome and exome sequencing. A. IJpma.
2732T High-throughput discovery of deleterious cardiac sodium channel variants. A. Glazer.
2733F Integration of exome genetic variation into mass spectrometry peptide identification to effectively identify plasma proteome QTLs. T. Solomon.
2734W Large-scale generation of iPSC-derived cardiomyocytes for functional genomic applications. M.K.R. Donovan.
2735T The iPSCORE resource: 222 iPSC lines enabling functional characterization of genetic variation across a variety of cell types. E.N. Smith.
2750T Enhancer signature of dilated cardiomyopathy. D. Hemerich.
Statistical Genetics and Genetic Epidemiology
2766F Smoking-by-genotype interaction in type 2 diabetes. P. Wu.
2770W Fine-mapping and characterization of GWAS loci harboring extensive allelic heterogeneity. C. Spracklen.
2784F Trans-ethnic meta-analysis of rare variants in sequencing association studies. J. Shi.
2793F Adaptive multi-trait association test using GWAS summary data. B. Wu.
2799F Trans-ethnic GWAS identifies genetic variants associated with white blood cell counts in the Population Architecture using Genomics and Epidemiology (PAGE) Study. K.K. Nishimura.
2800W Finding genomic variants regulating the exon-skipping. R. Liu.
2805F Statistical framework for biological interpretation and improvement of genetic association studies. M. Artomov.
2812W Penalized regression for detecting rare variant effects under extreme phenotype sampling for continuous traits. C. Xu.
2814F Tissue-specific genetic regulated expression in late-onset Alzheimer’s disease: The Alzheimer’s Disease Genetics Consortium (ADGC). H.-H. Chen.
2818W Genome-wide rare variant imputation and tissue-specific transcriptomic analysis identify novel rare variant candidate loci in late-onset Alzheimer’s Disease: The Alzheimer’s Disease Genetics Consortium (ADGC). A.C. Naj.
2829F Comparison of methods for multivariate gene-based association analysis using common variants for complex disease. J. Chung.
2831T Multivariate genome-wide association study for volumes of structural MRI regions of interest measures via a genetic correlation network modular analysis. J. Liang.
2853F Flipping GWAS on its head: A statistical approach to identify genetically distinct disease subphenotypes. A. Dahl.
2855T Integrating eQTL data with GWAS summary statistics identifies novel genes and pathways associated with schizophrenia. C. Wu.
2900T Iranome: A human genome variation database of eight major ethnic groups that live in Iran and neighboring countries in the Middle East. M.R. Akbari.
2905W Improved genotype imputation in disease-relevant regions with inclusion of patient sequence data: Lessons from cystic fibrosis. N. Panjwani.
2907F Genetic determinants of urinary biomarkers in the UK Biobank. D. Zanetti.
2912T Leveraging whole genome sequence data to improve imputation and increase power in GWAS of diverse populations. C. Quick.
2934F A CREBRF missense mutation substantially affects height in Samoans. S.L. Rosenthal.
2941W TRUFFLE: Tests of undetermined relationships between founders - fast, light and efficient. A. Dimitromanolakis.
2951T Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. H.K. Finucane.
2954T Local genetic correlation gives insights into the shared genetic architecture of complex traits. H. Shi.
2974W Integrative analysis of GWAS summary statistics and imputed gene expression in 44 tissues deciphers genetic architecture for many complex traits. M. Li.
2979F Using relationships inferred from electronic health records to conduct genetic studies. F. Polubriaginof.
2983W Pervasive pleiotropy in the human genome revealed by a novel quantitative analysis of summary association statistics. D.M. Jordan.
2992W DESCEND: Expression distribution deconvolution in scRNA-seq and characterization of transcriptional bursting and expression dispersion. J. Wang.
3004W Integrative analysis of eQTL and GWAS summary statistics to identify functional relationships. J. Morrison.
3006F Y chromosome variants associate with height but not disease risk factors: The Ygen consortium. N. Pirastu.
3007W Heritability informed power optimization (HIPO) leads to improved methods of discovering genetic association across multiple traits. G. Qi.
3019W Efficiently controlling for unbalanced case-control sampling and sample relatedness for binary traits in PheWAS by large cohorts. W. Zhou.