The power of genetic diversity in genome-wide association studies of lipids

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

(2021) Daniel Taliun et al.   NATURE

Repositioning of the global epicentre of non-optimal cholesterol

(2020)   NATURE

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

(2019) Amy R. Bentley et al.   NATURE GENETICS

Clinical use of current polygenic risk scores may exacerbate health disparities

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

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Analysis of polygenic risk score usage and performance in diverse human populations

(2019) L. Duncan et al.   Nature Communications

Cohort profile: East London genes & health (ELGH), a community-based population genomics and health study of British Bangladeshi and British Pakistani people

(2019) Sarah Finer et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

(2019) Madeline H. Kowalski et al.   PLoS 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

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

(2018) Amit V. Khera 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, regional, and national age-sex-specific mortality for 282 causes of death in 195 countries and territories, 1980–2017: a systematic analysis for the Global Burden of Disease Study 2017

(2018) Gregory A Roth et al.   LANCET

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

(2018) Derek Klarin et al.   NATURE GENETICS

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel

(2017) Brian A. Ference et al.   EUROPEAN HEART JOURNAL

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution

(2017) Reedik Mägi et al.   HUMAN MOLECULAR GENETICS

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels

(2017) Cassandra N. Spracklen et al.   HUMAN MOLECULAR GENETICS

Exome chip meta-analysis identifies novel loci and East Asian–specific coding variants that contribute to lipid levels and coronary artery disease

(2017) Xiangfeng Lu et al.   NATURE GENETICS

Exome-wide association study of plasma lipids in >300,000 individuals

(2017) Dajiang J Liu et al.   NATURE GENETICS

Transethnic Genetic-Correlation Estimates from Summary Statistics

(2016) Brielin C. Brown et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

(2016) Valentina Iotchkova et al.   NATURE GENETICS

Fast and accurate long-range phasing in a UK Biobank cohort

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

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants: Fig. 1.

(2015) Mitchell J. Machiela et al.   BIOINFORMATICS

WGSA: an annotation pipeline for human genome sequencing studies

(2015) Xiaoming Liu et al.   JOURNAL OF MEDICAL GENETICS

The impact of low-frequency and rare variants on lipid levels

(2015) Ida Surakka et al.   NATURE GENETICS

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

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

Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

(2015) Elisabeth M. van Leeuwen et al.   Nature Communications

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

(2014) Gina M. Peloso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RAREMETAL: fast and powerful meta-analysis for rare variants

(2014) S. Feng et al.   BIOINFORMATICS

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

(2014) Oddgeir L Holmen et al.   NATURE GENETICS

Quality control and conduct of genome-wide association meta-analyses

(2014) Thomas W Winkler et al.   Nature Protocols

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

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

(2013) Dajiang J Liu et al.   NATURE GENETICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

(2013) Ioanna Tachmazidou et al.   Nature Communications

Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci

(2012) Folkert W. Asselbergs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Estimation of pleiotropy between complex diseases using single-nucleotide polymorphism-derived genomic relationships and restricted maximum likelihood

(2012) S.H. Lee et al.   BIOINFORMATICS

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

(2012) A. Albrechtsen et al.   DIABETOLOGIA

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

(2012) Pablo Cingolani et al.   FLY

Bayesian refinement of association signals for 14 loci in 3 common diseases

(2012) Julian B Maller et al.   NATURE GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

The Genetic Structure and History of Africans and African Americans

(2009) S. A. Tishkoff et al.   SCIENCE

Polymorphisms Associated with Cholesterol and Risk of Cardiovascular Events

(2008) Sekar Kathiresan et al.   NEW ENGLAND JOURNAL OF MEDICINE