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

PURPOSE: Several in silico tools have been shown to have reasonable research sensitivity and specificity for classifying sequence variants in coding regions. The recently-developed Combined Annotation Dependent Depletion (CADD) method generates predictive scores for single nucleotide variants (SNVs)...

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Publicado en:Genet Med
Main Authors: Mather, Cheryl A, Mooney, Sean D, Salipante, Stephen J, Scroggins, Sheena, Wu, David, Pritchard, Colin C, Shirts, Brian H
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5097698/
https://ncbi.nlm.nih.gov/pubmed/27148939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.44
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