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    Article

    Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification

    Coronary artery calcification (CAC) is a measure of atherosclerosis and a well-established predictor of coronary artery disease (CAD) events. Here we describe a genome-wide association study of CAC in 22,400 p...

    Paul S. de Vries, Matthew P. Conomos, Kuldeep Singh in Nature Cardiovascular Research (2023)

  2. Article

    Open Access

    A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease

    Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before onset—remains an important public health need. Prior studies have developed genome-wide polygenic scores to enable ...

    Aniruddh P. Patel, Minxian Wang, Yunfeng Ruan, Satoshi Koyama in Nature Medicine (2023)

  3. Article

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

    Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni in Nature (2023)

  4. Article

    Open Access

    Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

    Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understandi...

    Stavroula Kanoni, Sarah E. Graham, Yuxuan Wang, Ida Surakka in Genome Biology (2022)

  5. Article

    Open Access

    Confounders mediate AI prediction of demographics in medical imaging

    Deep learning has been shown to accurately assess “hidden” phenotypes from medical imaging beyond traditional clinician interpretation. Using large echocardiography datasets from two healthcare systems, we tes...

    Grant Duffy, Shoa L. Clarke, Matthew Christensen, Bryan He in npj Digital Medicine (2022)

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    Article

    Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations

    A polygenic risk score (PRS) is a measure of genetic liability to a disease and is typically normally distributed in a population. Individuals in the upper tail of this distribution often have relative risk eq...

    Ozan Dikilitas, Daniel J. Schaid, Catherine Tcheandjieu in Current Cardiology Reports (2022)

  7. Article

    Open Access

    Broad clinical manifestations of polygenic risk for coronary artery disease in the Women’s Health Initiative

    The genetic basis for coronary artery disease (CAD) risk is highly complex. Genome-wide polygenic risk scores (PRS) can help to quantify that risk, but the broader impacts of polygenic risk for CAD are not wel...

    Shoa L. Clarke, Matthew Parham, Joanna Lankester in Communications Medicine (2022)

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    Article

    Large-scale genome-wide association study of coronary artery disease in genetically diverse populations

    We report a genome-wide association study (GWAS) of coronary artery disease (CAD) incorporating nearly a quarter of a million cases, in which existing studies are integrated with data from cohorts of white, Bl...

    Catherine Tcheandjieu, **ang Zhu, Austin T. Hilliard, Shoa L. Clarke in Nature Medicine (2022)

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    Article

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

    Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treat...

    Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni in Nature (2021)

  10. No Access

    Article

    Genome-Wide Association Studies of Coronary Artery Disease: Recent Progress and Challenges Ahead

    Genome-wide association studies (GWAS) have been the primary tool for unbiased assessment of the genetic basis of coronary artery disease (CAD) for more than a decade. We summarize successes as well as shortco...

    Shoa L. Clarke, Themistocles L. Assimes in Current Atherosclerosis Reports (2018)

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    Article

    GREAT improves functional interpretation of cis-regulatory regions

    ChIP-Seq data are usually analyzed with approaches developed for microarrays, which only consider binding events within a few kilobases of a gene. McLean et al. present an algorithm that takes into account more d...

    Cory Y McLean, Dave Bristor, Michael Hiller, Shoa L Clarke in Nature Biotechnology (2010)