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Article

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

Nature genetics - 1 Mar 2014

Kircher Martin, Witten Daniela M, Jain Preti, O'Roak Brian J, Cooper Gregory M, Shendure Jay

Abstract excerpt

Current methods for annotating and interpreting human genetic variation tend to exploit a single information type (for example, conservation) and/or are restricted in scope (for example, to missense changes). Here we describe Combined Annotation-Dependent Depletion (CADD), a method for objectively integrating many diverse annotations into a single measure (C score) for each variant. We implement CADD as a support...

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Share to Genetic Variation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24487276
DOI: 10.1038/ng.2892
PMCID: PMC3992975

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