Polygenic architecture of rare coding variation across 394,783 exomes

Partitioning gene-mediated disease heritability without eQTLs

(2022) Daniel J. Weiner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An effector index to predict target genes at GWAS loci

(2022) Vincenzo Forgetta et al.   HUMAN GENETICS

Genetic associations of protein-coding variants in human disease

(2022) Benjamin B. Sun et al.   NATURE

Reduced reproductive success is associated with selective constraint on human genes

(2022) Eugene J. Gardner et al.   NATURE

Rare coding variants in ten genes confer substantial risk for schizophrenia

(2022) Tarjinder Singh et al.   NATURE

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

(2022) Pierrick Wainschtein et al.   NATURE GENETICS

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

(2022) Duncan S. Palmer et al.   NATURE GENETICS

Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank

(2022) Kiran J. Biddinger et al.   JAMA Cardiology

Rare genetic variants explain missing heritability in smoking

(2022) Seon-Kyeong Jang et al.   Nature Human Behaviour

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

(2022) Jack M. Fu et al.   NATURE GENETICS

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

(2022) Karthik A. Jagadeesh et al.   NATURE GENETICS

Cross-trait assortative mating is widespread and inflates genetic correlation estimates

(2022) Richard Border et al.   SCIENCE

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

Exome sequencing and analysis of 454,787 UK Biobank participants

(2021) Joshua D. Backman et al.   NATURE

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

(2020) Wei Zhou et al.   NATURE GENETICS

Risk in Relatives, Heritability, SNP-Based Heritability, and Genetic Correlations in Psychiatric Disorders: A Review

(2020) Bart M.L. Baselmans et al.   BIOLOGICAL PSYCHIATRY

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

(2020) Akl C. Fahed et al.   Nature Communications

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

(2019) Armin P. Schoech et al.   Nature Communications

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Genes with High Network Connectivity Are Enriched for Disease Heritability

(2019) Samuel S. Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

(2019) Amit V. Khera et al.   CELL

Trans Effects on Gene Expression Can Drive Omnigenic Inheritance

(2019) Xuanyao Liu et al.   CELL

Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits

(2019) Andrew D. Grotzinger et al.   Nature Human Behaviour

Extreme Polygenicity of Complex Traits Is Explained by Negative Selection

(2019) Luke J. O'Connor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

Signatures of negative selection in the genetic architecture of human complex traits

(2018) Jian Zeng et al.   NATURE GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

Analysis of shared heritability in common disorders of the brain

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A population genetic interpretation of GWAS findings for human quantitative traits

(2018) Yuval B. Simons et al.   PLOS BIOLOGY

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

(2018) Steven Gazal et al.   NATURE GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection

(2017) Steven Gazal et al.   NATURE GENETICS

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Statistical correction of the Winner’s Curse explains replication variability in quantitative trait genome-wide association studies

(2017) Cameron Palmer et al.   PLoS Genetics

Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data

(2016) Huwenbo Shi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

(2016) Giulio Genovese et al.   NATURE NEUROSCIENCE

Approximately independent linkage disequilibrium blocks in human populations

(2015) Tomaz Berisa et al.   BIOINFORMATICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

(2015) Po-Ru Loh et al.   NATURE GENETICS

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

(2015) Jian Yang et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

(2014) Alexander Gusev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Estimating Genetic Effects and Quantifying Missing Heritability Explained by Identified Rare-Variant Associations

(2012) Dajiang J. Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improved Heritability Estimation from Genome-wide SNPs

(2012) Doug Speed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE