Work

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

Year: 2016

Type: article

Source: Genetics in Medicine

DOI: 10.1038/gim.2016.44

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

Institutions: University of California, San Francisco, University of Washington

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Prostate Cancer Foundation, Damon Runyon Cancer Research Foundation, University of Washington, National Human Genome Research Institute, National Cancer Institute, Congressionally Directed Medical Research Programs

Awards: G2143808344, G4076350059, G4266498966, G623797913, Developing and Evaluating Patient Centered Tools for Clinical Classification of Variants of Uncertain Significance, Cancer Center Support Grant

OpenAlex ID: W2347169701

FWCI: 6.712

Cites: 40

Cited by: 56

Related to: 10