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

• Published in: Nature genetics Vol. 48; no. 12; pp. 1581 - 1586
• Main Authors: Jagadeesh, Karthik A, Wenger, Aaron M, Berger, Mark J, Guturu, Harendra, Stenson, Peter D, Cooper, David N, Bernstein, Jonathan A, Bejerano, Gill
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.12.2016; Nature Publishing Group
• Subjects: 45; 631/208/212/2166; 631/208/2489; 692/308/2056; 692/700/228/2050/1512; Agriculture; Amino acids; Animal Genetics and Genomics; Biomedicine; Cancer Research; Classification; Computational Biology - methods; Disease; Disease - genetics; DNA Mutational Analysis - methods; Exome - genetics; Gene Function; Genes; Genetic Markers - genetics; Genetic Predisposition to Disease; Genomes; Genomics; Human Genetics; Humans; Medical research; Mutation; Mutation - genetics; Pathogens; Predictive Value of Tests; Software; Teaching methods; technical-report

Gill Bejerano and colleagues present M-CAP, a classifier that estimates variant pathogenicity in clinical exome data sets. They show that M-CAP outperforms other existing methods at all thresholds and correctly dismisses 60% of rare missense variants of uncertain significance at 95% sensitivity. Var...