Population scale whole genome sequencing provides novel insights into cardiometabolic health
Yajie Zhao,
Sam Lockhart,
Jimmy Liu
et al.
Abstract:In addition to its coverage of the non-coding genome, whole genome sequencing (WGS) may better capture the coding genome than exome sequencing. We sought to exploit this and identify novel rare, protein-coding variants associated with metabolic health in newly released WGS data (N=708,956) from the UK Biobank and All of Us studies. Identified genes highlight novel biological mechanisms, including protein truncating variants (PTVs) in the DNA double-strand break repair gene RIF1 that have a substantial effect o… Show more
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