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A general framework for estimating the relative pathogenicity of human genetic variants

, , , , , and . Nature Genetics, 46 (3): 310--315 (2014)
DOI: 10.1038/ng.2892

Abstract

Jay Shendure, Greg Cooper and colleagues report a framework for annotation of genetic variation, Combined Annotation–Dependent Depletion (CADD), integrating diverse annotations into a single C score. They show that C scores correlate with annotations of functionality, pathogenicity and experimentally measured regulatory effects.

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