Bayesian model comparison for rare-variant association studies

Genetics of 35 blood and urine biomarkers in the UK Biobank

(2021) Nasa Sinnott-Armstrong et al.   NATURE GENETICS

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci

(2020) Despoina Manousaki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide association study on liver enzymes in Korean population

(2020) Ji Yeon Seo et al.   PLoS One

Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics

(2020) Chani J. Hodonsky et al.   BMC GENOMICS

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

(2020) Anders Bergström et al.   SCIENCE

Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis

(2020) Tom G. Richardson et al.   PLOS MEDICINE

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

(2020) Ming-Huei Chen et al.   CELL

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

(2020) Jonas B. Nielsen et al.   Nature Communications

Urate, Blood Pressure, and Cardiovascular Disease

(2020) Dipender Gill et al.   HYPERTENSION

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

(2019) Tuomas O. Kilpeläinen et al.   Nature Communications

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

(2019) Kaustubh Adhikari et al.   Nature Communications

The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits

(2019) Sanghoon Moon et al.   Scientific Reports

Measuring intolerance to mutation in human genetics

(2019) Zachary L. Fuller et al.   NATURE GENETICS

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

(2019) Sarah E. Graham et al.   Nature Communications

Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations

(2019) Frida Lona-Durazo et al.   BMC GENETICS

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Meta‐MultiSKAT: Multiple phenotype meta‐analysis for region‐based association test

(2019) Diptavo Dutta et al.   GENETIC EPIDEMIOLOGY

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

(2019) Deepti Gurdasani et al.   CELL

A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio

(2019) Francesco Casanova et al.   HUMAN MOLECULAR GENETICS

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

(2018) Pirro G. Hysi et al.   NATURE GENETICS

A large electronic-health-record-based genome-wide study of serum lipids

(2018) Thomas J. Hoffmann et al.   NATURE GENETICS

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

(2018) Masahiro Kanai et al.   NATURE GENETICS

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

(2018) Wei Zhou et al.   NATURE GENETICS

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

(2018) Gregory McInnes et al.   BIOINFORMATICS

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

(2018) Michael D. Morgan et al.   Nature Communications

A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms

(2017) Salome Mack et al.   JOURNAL OF LIPID RESEARCH

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos

(2017) Chani J. Hodonsky et al.   PLoS Genetics

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

(2017) Eleanor Wheeler et al.   PLOS MEDICINE

Loss-of-function mutations in APOC3 , remnant cholesterol, LDL cholesterol, and risk of ischemic vascular disease

(2016) A.B. Jørgensen et al.   ATHEROSCLEROSIS

metaCCA: summary statistics-based multivariate meta-analysis of genome-wide association studies using canonical correlation analysis

(2016) Anna Cichonska et al.   BIOINFORMATICS

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

(2016) Swapan Mallick et al.   NATURE

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

(2015) Fan Liu et al.   HUMAN GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

An atlas of genetic correlations across human diseases and traits

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

Efficient Bayesian mixed-model analysis increases association power in large cohorts

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

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Rare-Variant Association Analysis: Study Designs and Statistical Tests

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

RAREMETAL: fast and powerful meta-analysis for rare variants

(2014) S. Feng et al.   BIOINFORMATICS

Saturation editing of genomic regions by multiplex homology-directed repair

(2014) Gregory M. Findlay et al.   NATURE

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

(2014) A. R. Majithia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Assessing association between protein truncating variants and quantitative traits

(2013) M. A. Rivas et al.   BIOINFORMATICS

Meta-analysis of gene-level tests for rare variant association

(2013) Dajiang J Liu et al.   NATURE GENETICS

Common variants associated with plasma triglycerides and risk for coronary artery disease

(2013) Ron Do et al.   NATURE GENETICS

Pleiotropy in complex traits: challenges and strategies

(2013) Nadia Solovieff et al.   NATURE REVIEWS GENETICS

A Unified Framework for Association Analysis with Multiple Related Phenotypes

(2013) Matthew Stephens   PLoS One

A Flexible Approach for the Analysis of Rare Variants Allowing for a Mixture of Effects on Binary or Quantitative Traits

(2013) Geraldine M. Clarke et al.   PLoS Genetics

Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations

(2013) Gavin Band et al.   PLoS Genetics

Effect of a Monoclonal Antibody to PCSK9 on Low-Density Lipoprotein Cholesterol Levels in Statin-Intolerant Patients

(2012) David Sullivan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur 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

Enhancements to the ADMIXTURE algorithm for individual ancestry estimation

(2011) David H Alexander et al.   BMC BIOINFORMATICS

New gene functions in megakaryopoiesis and platelet formation

(2011) Christian Gieger et al.   NATURE

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Pervasive Sharing of Genetic Effects in Autoimmune Disease

(2011) Chris Cotsapas et al.   PLoS Genetics

Testing for an Unusual Distribution of Rare Variants

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

Genome-wide association of serum bilirubin levels in Korean population

(2010) Tae-Wook Kang et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Genome-wide association study of hematological and biochemical traits in a Japanese population

(2010) Yoichiro Kamatani et al.   NATURE GENETICS

Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene

(2010) Karen Kapur et al.   PLoS Genetics

Computing the distribution of quadratic forms: Further comparisons between the Liu–Tang–Zhang approximation and exact methods

(2009) Pierre Duchesne et al.   COMPUTATIONAL STATISTICS & DATA ANALYSIS

Glucose-6-phosphatase Catalytic Subunit Gene Family

(2009) John C. Hutton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE