M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Abstract
Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in interpretation of the hundreds of rare, missense variants in the typical patient genome by deprioritizing some variants as likely benign. These widely used methods misclassify 26 to 38% of known pathogenic mutations, which could lead to missed diagnoses if the classifiers are trusted as definitive in a clinical setting. We developed M-CAP, a clinical...
Paper Details
Title
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Published Date
Oct 24, 2016
Journal
Volume
48
Issue
12
Pages
1581 - 1586
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