M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

@article{Jagadeesh2016MCAPEA,
  title={M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity},
  author={Karthik A Jagadeesh and Aaron M. Wenger and Mark J. Berger and Harendra Guturu and Peter D. Stenson and David N. Cooper and J A Bernstein and Gill Bejerano},
  journal={Nature Genetics},
  year={2016},
  volume={48},
  pages={1581-1586}
}
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 pathogenicity classifier that outperforms existing methods… CONTINUE READING
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