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.

Mendelian Phenotypes


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.

Omics Technologies


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.

Cardiovascular Phenotypes


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.