M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity - Jagadeesh, Karthik A; Wenger, Aaron M; Berger, Mark J; Guturu, Harendra; Stenson, Peter D; Cooper, David N; Bernstein, Jonathan A; Bejerano, Gill (Nature genetics, 2016)
Keywords: 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