Article

Using high-resolution variant frequencies to empower clinical genome interpretation

2016-09-02

Abstract excerpt

<h4>ABSTRACT</h4> Whole exome and genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating pathogenic from benign variants remains a daunting challenge. Rarity is recognised as a necessary, although not sufficient, criterion for pathogenicity, but frequency cutoffs used in Mendelian analysis are often arbitrary and overly lenient. Recent very larg...

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Literature Corpus work: ab828bc9-9c6b-56d7-9aa9-ecc029f00a86
DOI: 10.1101/073114

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