CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel

Genetics in Medicine

Volumn 18, Issue 12, 2016, Pages 1269-1275

  Mather, Cheryl A ^a,b   Mooney, Sean D ^a   Salipante, Stephen J ^a   Scroggins, Sheena ^a   Wu, David ^a   Pritchard, Colin C ^a   Shirts, Brian H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

CADD score; Combined annotation dependent depletion; in silico predictor; noncoding sequences; Predictive algorithm

Indexed keywords

ALGORITHM; ARTICLE; CARCINOGENESIS; COMBINED ANNOTATION DEPENDENT DEPLETION SCORE; GENETIC VARIABILITY; GERMLINE MUTATION; HEREDITARY TUMOR; HUMAN; INTRON; PREDICTIVE VALUE; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDITY; BIOLOGY; EXOME; GENETIC VARIATION; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; NEOPLASMS; SOFTWARE;

COMPUTATIONAL BIOLOGY; EXOME; GENETIC VARIATION; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE;

EID: 85000623648     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.44     Document Type: Article

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