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

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

Phenotypic covariance across the entire spectrum of relatedness for 86 billion pairs of individuals

(2021) Kathryn E. Kemper et al.   Nature Communications

Insights into human genetic variation and population history from 929 diverse genomes

(2020) Anders Bergström et al.   SCIENCE

Demographic history mediates the effect of stratification on polygenic scores

(2020) Arslan A Zaidi et al.   eLife

Ultrarare variants drive substantial cis heritability of human gene expression

(2019) Ryan D. Hernandez et al.   NATURE GENETICS

A resource-efficient tool for mixed model association analysis of large-scale data

(2019) Longda Jiang et al.   NATURE GENETICS

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

(2018) Luke M. Evans et al.   NATURE GENETICS

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

(2018) Jian Zeng et al.   NATURE GENETICS

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

How to estimate kinship

(2018) Jérôme Goudet et al.   MOLECULAR ECOLOGY

Relatedness disequilibrium regression estimates heritability without environmental bias

(2018) Alexander I. Young et al.   NATURE GENETICS

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

(2017) Mario Mitt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2017) Steven Gazal et al.   NATURE GENETICS

Reevaluation of SNP heritability in complex human traits

(2017) Doug Speed et al.   NATURE GENETICS

Assortative mating for human height: A meta-analysis

(2016) Gert Stulp et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Selection and explosive growth alter genetic architecture and hamper the detection of causal rare variants

(2016) Lawrence H. Uricchio et al.   GENOME RESEARCH

Reference-based phasing using the Haplotype Reference Consortium panel

(2016) Po-Ru Loh et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

(2015) Hashem A. Shihab et al.   BIOINFORMATICS

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

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

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

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

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

Statistical Power to Detect Genetic (Co)Variance of Complex Traits Using SNP Data in Unrelated Samples

(2014) Peter M. Visscher et al.   PLoS Genetics

RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference

(2013) Brian K. Maples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

(2012) A. Keinan et al.   SCIENCE

Variability in the Heritability of Body Mass Index: A Systematic Review and Meta-Regression

(2012) Cathy E. Elks et al.   Frontiers in Endocrinology

Genome partitioning of genetic variation for complex traits using common SNPs

(2011) Jian Yang et al.   NATURE GENETICS

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

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

(2010) Jian Yang et al.   NATURE GENETICS

Efficient Methods to Compute Genomic Predictions

(2008) P.M. VanRaden   JOURNAL OF DAIRY SCIENCE