Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

(2021) Edward Mountjoy et al.   NATURE GENETICS

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

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

(2020) Kazuyoshi Ishigaki et al.   NATURE GENETICS

Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

(2020) Theo Vos et al.   LANCET

Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease

(2020) Satoshi Koyama et al.   NATURE GENETICS

Functionally informed fine-mapping and polygenic localization of complex trait heritability

(2020) Omer Weissbrod et al.   NATURE GENETICS

Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements

(2020) Tiffany Amariuta et al.   NATURE GENETICS

Genetic effects on promoter usage are highly context-specific and contribute to complex traits

(2019) Kaur Alasoo et al.   eLife

Regulation of MFGE8 by the intergenic coronary artery disease locus on 15q26.1

(2019) Sébastien Soubeyrand et al.   ATHEROSCLEROSIS

Genetic Insights Into Smooth Muscle Cell Contributions to Coronary Artery Disease

(2019) Doris Wong et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

(2019) L. Duncan et al.   Nature Communications

Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score: Results From the FOURIER Trial

(2019) Nicholas A. Marston et al.   CIRCULATION

Patients with High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit from Alirocumab Treatment in the Odyssey Outcomes Trial

(2019) Amy Damask et al.   CIRCULATION

The Atherosclerosis Risk Variant rs2107595 Mediates Allele-Specific Transcriptional Regulation of HDAC9 via E2F3 and Rb1

(2019) Matthias Prestel et al.   STROKE

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

ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci

(2018) David Stacey et al.   NUCLEIC ACIDS RESEARCH

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

(2018) Derek Klarin et al.   NATURE GENETICS

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

(2017) Thomas R. Webb et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genome-wide identification of genes essential for podocyte cytoskeletons based on single-cell RNA sequencing

(2017) Yuqiu Lu et al.   KIDNEY INTERNATIONAL

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease

(2017) Derek Klarin et al.   NATURE GENETICS

Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms

(2017) Joanna M M Howson et al.   NATURE GENETICS

Association analyses based on false discovery rate implicate new loci for coronary artery disease

(2017) Christopher P Nelson et al.   NATURE GENETICS

Identification of 15 novel risk loci for coronary artery disease and genetic risk of recurrent events, atrial fibrillation and heart failure

(2017) Niek Verweij et al.   Scientific Reports

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease

(2017) Pim van der Harst et al.   CIRCULATION RESEARCH

Rationale and design of the Further cardiovascular OUtcomes Research with PCSK9 Inhibition in subjects with Elevated Risk trial

(2016) Marc S. Sabatine et al.   AMERICAN HEART JOURNAL

Vascular Smooth Muscle Cells in Atherosclerosis

(2016) Martin R. Bennett et al.   CIRCULATION RESEARCH

Evaluating the contribution of genetics and familial shared environment to common disease using the UK Biobank

(2016) María Muñoz et al.   NATURE GENETICS

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

(2016)   NEW ENGLAND JOURNAL OF MEDICINE

Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases

(2016) O. Franzen et al.   SCIENCE

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature

(2015) Norifumi Takeda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

(2015) Ida Surakka et al.   NATURE GENETICS

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

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

Biological interpretation of genome-wide association studies using predicted gene functions

(2015) Tune H. Pers et al.   Nature Communications

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

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

(2015) Christopher C Chang et al.   GigaScience

Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits

(2014) Joseph K. Pickrell   AMERICAN JOURNAL OF HUMAN GENETICS

Inhibition of the Plasma SCUBE1, a Novel Platelet Adhesive Protein, Protects Mice Against Thrombosis

(2014) M.-Y. Wu et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

The contribution of genetic variants to disease depends on the ruler

(2014) John S. Witte et al.   NATURE REVIEWS GENETICS

MafB promotes atherosclerosis by inhibiting foam-cell apoptosis

(2014) Michito Hamada et al.   Nature Communications

Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies

(2014) Gleb Kichaev et al.   PLoS Genetics

Milk Fat Globule Epidermal Growth Factor VIII Signaling in Arterial Wall Remodeling

(2013) Mingyi Wang et al.   Current Vascular Pharmacology

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst et al.   NATURE METHODS

Selective Inhibition of Matrix Metalloproteinase-13 Increases Collagen Content of Established Mouse Atherosclerosis

(2011) Thibaut Quillard et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

(2011) John C Chambers et al.   NATURE GENETICS

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

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

Motorized RhoGAP myosin IXb (Myo9b) controls cell shape and motility

(2010) P. J. Hanley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

(2008) Stefano Romeo et al.   NATURE GENETICS