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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016

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

Abstract excerpt

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) in all areas of the genome, including noncoding regions. We sought for non-coding variants to determine the...

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Identifiers

PMID: 27148939
DOI: 10.1038/gim.2016.44
PMCID: PMC5097698

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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