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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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Detalles Bibliográficos
Autores principales:	Mather, Cheryl A, Mooney, Sean D, Salipante, Stephen J, Scroggins, Sheena, Wu, David, Pritchard, Colin C, Shirts, Brian H
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097698/ https://www.ncbi.nlm.nih.gov/pubmed/27148939 http://dx.doi.org/10.1038/gim.2016.44

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