A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets

When Is Selection Effective?

(2016) Simon Gravel   GENETICS

When Is Selection Effective?

(2016) Simon Gravel   GENETICS

Dominant Genetic Variation and Missing Heritability for Human Complex Traits: Insights from Twin versus Genome-wide Common SNP Models

(2015) Xu Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominance Genetic Variation Contributes Little to the Missing Heritability for Human Complex Traits

(2015) Zhihong Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Nature of Genetic Variation for Complex Traits Revealed by GWAS and Regional Heritability Mapping Analyses

(2015) A. Caballero et al.   GENETICS

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

(2015) Jennifer Wessel et al.   Nature Communications

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

(2015) Daniel J. Balick et al.   PLoS Genetics

High burden of private mutations due to explosive human population growth and purifying selection

(2014) Feng Gao et al.   BMC GENOMICS

Population Genetic Simulations of Complex Phenotypes with Implications for Rare Variant Association Tests

(2014) Lawrence H. Uricchio et al.   GENETIC EPIDEMIOLOGY

Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases

(2014) Huann-Sheng Chen et al.   GENETIC EPIDEMIOLOGY

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

Detecting epistasis in human complex traits

(2014) Wen-Hua Wei et al.   NATURE REVIEWS GENETICS

Statistical power and significance testing in large-scale genetic studies

(2014) Pak C. Sham et al.   NATURE REVIEWS GENETICS

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Explaining additional genetic variation in complex traits

(2014) Matthew R. Robinson et al.   TRENDS IN GENETICS

The Impact of Population Demography and Selection on the Genetic Architecture of Complex Traits

(2014) Kirk E. Lohmueller   PLoS Genetics

Estimation of SNP Heritability from Dense Genotype Data

(2013) S. Hong Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population Growth Inflates the Per-Individual Number of Deleterious Mutations and Reduces Their Mean Effect

(2013) Elodie Gazave et al.   GENETICS

Population Genetics of Rare Variants and Complex Diseases

(2013) M. Cyrus Maher et al.   HUMAN HEREDITY

Evaluating empirical bounds on complex disease genetic architecture

(2013) Vineeta Agarwala et al.   NATURE GENETICS

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Neutral genomic regions refine models of recent rapid human population growth

(2013) E. Gazave et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Properties and Modeling of GWAS when Complex Disease Risk Is Due to Non-Complementing, Deleterious Mutations in Genes of Large Effect

(2013) Kevin R. Thornton et al.   PLoS Genetics

Five Years of GWAS Discovery

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

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe et al.   NATURE GENETICS

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS 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

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

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

(2012) A. Keinan et al.   SCIENCE

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses

(2011) P M Visscher et al.   MOLECULAR PSYCHIATRY

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results

(2011) Naomi R. Wray et al.   PLOS BIOLOGY

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS Genetics

GCTA: A Tool for Genome-wide Complex Trait Analysis

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

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Synthetic associations in the context of genome-wide association scan signals

(2010) G. Orozco et al.   HUMAN MOLECULAR GENETICS

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

(2010) Ju-Hyun Park et al.   NATURE GENETICS

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

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

(2010) Jian Yang et al.   NATURE GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies

(2010) A. Eyre-Walker   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

(2010) Alex Coventry et al.   Nature Communications

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Designing Genome-Wide Association Studies: Sample Size, Power, Imputation, and the Choice of Genotyping Chip

(2009) Chris C. A. Spencer et al.   PLoS Genetics

Genome-wide association studies: potential next steps on a genetic journey

(2008) M. I. McCarthy et al.   HUMAN MOLECULAR GENETICS

Heritability in the genomics era — concepts and misconceptions

(2008) Peter M. Visscher et al.   NATURE REVIEWS GENETICS

The prevalence of folate-remedial MTHFR enzyme variants in humans

(2008) N. J. Marini et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Data and Theory Point to Mainly Additive Genetic Variance for Complex Traits

(2008) William G. Hill et al.   PLoS Genetics