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

Nature Genetics

Volumn 48, Issue 12, 2016, Pages 1581-1586

  Jagadeesh, Karthik A ^a   Wenger, Aaron M ^b   Berger, Mark J ^a   Guturu, Harendra ^b   Stenson, Peter D ^c   Cooper, David N ^c   Bernstein, Jonathan A ^b   Bejerano, Gill ^a,b  

^a Stanford University   (United States)

^b STANFORD UNIVERSITY   (United States)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AREA UNDER THE CURVE; ARTICLE; CLASSIFIER; CLINICAL CLASSIFICATION; CONTROLLED STUDY; FALSE POSITIVE RESULT; GENE FREQUENCY; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; LEARNING ALGORITHM; MENDELIAN CLINICALLY APPLICABLE PATHOGENICITY SCORE; MISSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; BIOLOGY; DISEASES; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; MUTATION; PREDICTIVE VALUE; PROCEDURES; SOFTWARE;

GENETIC MARKER;

COMPUTATIONAL BIOLOGY; DISEASE; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PREDICTIVE VALUE OF TESTS; SOFTWARE;

EID: 84992389439     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3703     Document Type: Article

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