Combined Annotation Dependent Depletion (CADD) is a tool that evaluates the deleteriousness of single nucleotide, insertion and deletion variants in the human genome. In contrast with other annotation tools that are restricted in scope, the CADD framework integrates multiple annotations into one metric. This is done by contrasting variants that survived natural selection with simulated mutations.
External links edit
- "Combined Annotation Dependent Depletion (CADD)". cadd.gs.washington.edu. Retrieved 22 January 2021.
- Kircher, Martin; Witten, Daniela M.; Jain, Preti; O’Roak, Brian J.; Cooper, Gregory M.; Shendure, Jay (2014). "A general framework for estimating the relative pathogenicity of human genetic variants". Nature Genetics. 46 (3): 310–315. doi:10.1038/ng.2892. ISSN 1061-4036. PMC 3992975. PMID 24487276.
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