Article

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

2019-03-09

Abstract excerpt

<h4>SUMMARY</h4> The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world. Here we describe the first tranche of large-scale exome sequence data for 49,960 study participants, revealing approximately 4 million coding variants (of which ~98.4% have frequency < 1%). The data includes 231,631 predicted los...

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Literature Corpus work: ddf3d36f-399b-5ef2-a779-e666440ac112
DOI: 10.1101/572347

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