Article
Using high-resolution variant frequencies to empower clinical genome interpretation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017
Whiffin Nicola, Minikel Eric, Walsh Roddy, O'Donnell-Luria Anne H, Karczewski Konrad, Ing Alexander Y, Barton Paul J R, Funke Birgit, Cook Stuart A, MacArthur Daniel, Ware James S
Abstract excerpt
PurposeWhole-exome and whole-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 recognized as a necessary, although not sufficient, criterion for pathogenicity, but frequency cutoffs used in Mendelian analysis are often arbitrary and overly lenient. Recent very large...
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