Biology:Combined Annotation Dependent Depletion
From HandWiki
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
- "Combined Annotation Dependent Depletion (CADD)". http://cadd.gs.washington.edu/.
- 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. PMID 24487276.
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