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)...

Descripción completa

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

Internet

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

Ejemplares similares