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  1. Article

    Open Access

    Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure

    Heart failure is a leading cause of cardiovascular morbidity and mortality. However, the contribution of common genetic variation to heart failure risk has not been fully elucidated, particularly in comparison...

    Michael G. Levin, Noah L. Tsao, Pankhuri Singhal, Chang Liu in Nature Communications (2022)

  2. Article

    Open Access

    Exome sequencing and analysis of 454,787 UK Biobank participants

    A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1 to explore protein-altering ...

    Joshua D. Backman, Alexander H. Li, Anthony Marcketta, Dylan Sun, Joelle Mbatchou in Nature (2021)

  3. Article

    Open Access

    Exome sequencing and characterization of 49,960 individuals in the UK Biobank

    The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-seq...

    Cristopher V. Van Hout, Ioanna Tachmazidou, Joshua D. Backman, Joshua D. Hoffman in Nature (2020)

  4. Article

    Open Access

    Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

    Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) hav...

    Sonia Shah, Albert Henry, Carolina Roselli, Honghuang Lin in Nature Communications (2020)