Polygenic architecture of rare coding variation across 394,783 exomes

[1]  Ramkumar Veppathur Mohan,et al.  Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics , 2022, Nature Genetics.

[2]  Ryan L. Collins,et al.  Rare coding variation provides insight into the genetic architecture and phenotypic context of autism , 2022, Nature Genetics.

[3]  Ivana V. Yang,et al.  Rare genetic variants explain missing heritability in smoking , 2022, Nature Human Behaviour.

[4]  Jacqueline,et al.  Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes , 2022, Cell Genomics.

[5]  P. Ellinor,et al.  Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank. , 2022, JAMA cardiology.

[6]  J. Pritchard,et al.  Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery , 2022, bioRxiv.

[7]  N. Freimer,et al.  Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia , 2022, Nature Genetics.

[8]  S. Gabriel,et al.  Rare coding variants in ten genes confer substantial risk for schizophrenia , 2022, Nature.

[9]  T. Werge,et al.  Cross-trait assortative mating is widespread and inflates genetic correlation estimates , 2022, bioRxiv.

[10]  Andrew D. Johnson,et al.  Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data , 2022, Nature Genetics.

[11]  M. Hurles,et al.  Reduced reproductive success is associated with selective constraint on human genes , 2020, Nature.

[12]  S. Gazal,et al.  Partitioning gene-mediated disease heritability without eQTLs. , 2022, American journal of human genetics.

[13]  Benjamin B. Sun,et al.  Genetic associations of protein-coding variants in human disease , 2021, Nature.

[14]  M. McCarthy,et al.  An effector index to predict target genes at GWAS loci , 2021, Human Genetics.

[15]  J. Marchini,et al.  Exome sequencing and analysis of 454,787 UK Biobank participants , 2021, Nature.

[16]  Sri V. V. Deevi,et al.  Rare variant contribution to human disease in 281,104 UK Biobank exomes , 2021, Nature.

[17]  N. Wray,et al.  Risk in Relatives, Heritability, SNP-Based Heritability, and Genetic Correlations in Psychiatric Disorders: A Review , 2020, Biological Psychiatry.

[18]  Matthew S. Lebo,et al.  Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions , 2020, Nature Communications.

[19]  Mark I. McCarthy,et al.  A brief history of human disease genetics , 2020, Nature.

[20]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[21]  O. Andreassen,et al.  A global overview of pleiotropy and genetic architecture in complex traits , 2019, Nature Genetics.

[22]  F. Hormozdiari,et al.  Genes with High Network Connectivity Are Enriched for Disease Heritability. , 2019, American journal of human genetics.

[23]  Matthew S. Lebo,et al.  Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood , 2019, Cell.

[24]  Alicia R. Martin,et al.  Clinical use of current polygenic risk scores may exacerbate health disparities , 2019, Nature Genetics.

[25]  Wei Zhou,et al.  Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts , 2019, Nature Genetics.

[26]  A. Price,et al.  Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection , 2019, Nature Communications.

[27]  Yang I Li,et al.  Trans Effects on Gene Expression Can Drive Omnigenic Inheritance , 2018, Cell.

[28]  C. Cole,et al.  The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers , 2018, Nature Reviews Cancer.

[29]  P. Donnelly,et al.  The UK Biobank resource with deep phenotyping and genomic data , 2018, Nature.

[30]  N. Patterson,et al.  Extreme Polygenicity of Complex Traits Is Explained by Negative Selection. , 2019, American journal of human genetics.

[31]  A. Price,et al.  Functional architecture of low-frequency variants highlights strength of negative selection across coding and noncoding annotations , 2018, Nature Genetics.

[32]  Mary E. Haas,et al.  Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations , 2018, Nature Genetics.

[33]  Stuart J. Ritchie,et al.  Genomic SEM Provides Insights into the Multivariate Genetic Architecture of Complex Traits , 2019, Nature Human Behaviour.

[34]  Luke R. Lloyd-Jones,et al.  Signatures of negative selection in the genetic architecture of human complex traits , 2018, Nature Genetics.

[35]  R. Hudson,et al.  A population genetic interpretation of GWAS findings for human quantitative traits , 2018, PLoS biology.

[36]  Nick C Fox,et al.  Analysis of shared heritability in common disorders of the brain , 2018, Science.

[37]  Itsik Pe'er,et al.  Statistical correction of the Winner’s Curse explains replication variability in quantitative trait genome-wide association studies , 2017, bioRxiv.

[38]  C. Sudlow,et al.  Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population , 2017, American journal of epidemiology.

[39]  Yang I Li,et al.  An Expanded View of Complex Traits: From Polygenic to Omnigenic , 2017, Cell.

[40]  Evan Z. Macosko,et al.  Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types , 2017, Nature Genetics.

[41]  B. Neale,et al.  Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection , 2016, bioRxiv.

[42]  Stephan J Sanders,et al.  Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples , 2016, Nature Genetics.

[43]  Giulio Genovese,et al.  Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia , 2016, Nature Neuroscience.

[44]  B. Pasaniuc,et al.  Contrasting the genetic architecture of 30 complex traits from summary association data , 2016, bioRxiv.

[45]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[46]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[47]  Yakir A Reshef,et al.  Partitioning heritability by functional annotation using genome-wide association summary statistics , 2015, Nature Genetics.

[48]  P. Visscher,et al.  Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index , 2015, Nature Genetics.

[49]  Joseph K. Pickrell,et al.  Approximately independent linkage disequilibrium blocks in human populations , 2015, bioRxiv.

[50]  M. Daly,et al.  An Atlas of Genetic Correlations across Human Diseases and Traits , 2015, Nature Genetics.

[51]  N. Wray,et al.  Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance components analysis , 2015, Nature Genetics.

[52]  M. Daly,et al.  LD Score regression distinguishes confounding from polygenicity in genome-wide association studies , 2014, Nature Genetics.

[53]  Han Xu,et al.  Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. , 2014, American journal of human genetics.

[54]  G. Abecasis,et al.  Rare-variant association analysis: study designs and statistical tests. , 2014, American journal of human genetics.

[55]  Eric S. Lander,et al.  A polygenic burden of rare disruptive mutations in schizophrenia , 2014, Nature.

[56]  Doug Speed,et al.  Improved heritability estimation from genome-wide SNPs. , 2012, American journal of human genetics.

[57]  Suzanne M. Leal,et al.  Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations. , 2012, American journal of human genetics.

[58]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[59]  P. Visscher,et al.  Common SNPs explain a large proportion of heritability for human height , 2011 .

[60]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[61]  P. Visscher,et al.  Common polygenic variation contributes to risk of schizophrenia and bipolar disorder , 2009, Nature.

[62]  Kenny Q. Ye,et al.  Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.

[63]  J. Pritchard.  Are rare variants responsible for susceptibility to complex diseases? , 2001, American journal of human genetics.

[64]  J. Weissenbach,et al.  Identification and characterization of a spinal muscular atrophy-determining gene , 1995, Cell.