Article

Pathogenic and uncertain genetic variants have clinical cardiac correlates in diverse biobank participants

2019-07-28

Abstract excerpt

<h4>Background</h4> Genome sequencing coupled with electronic heath record data can uncover medically important genetic variation. Interpretation of rare genetic variation and its role in mediating cardiovascular phenotypes is confounded by variants of uncertain significance. <h4>Methods and Results</h4> We analyzed the whole genome sequence of 900 racially and ethnically diverse biobank participants selected fr...

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Literature Corpus work: 2dc0f43f-c1c7-56fd-b176-143a529119de
DOI: 10.1101/716662

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