Article

Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

2019-10-15

Abstract excerpt

<h4>Background</h4> By coupling large-scale DNA sequencing with electronic health records (EHR), “genome-first” approaches can enhance our understanding of the contribution of rare genetic variants to disease. Aggregating rare, loss-of-function variants in a candidate gene into a “gene burden” to test for association with EHR phenotypes can identify both known and novel clinical implications for the gene in human...

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Literature Corpus work: 6df66277-07cf-5d9a-bd0b-794d59c9ee00
DOI: 10.1101/798330

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