A general framework for estimating the relative pathogenicity of human genetic variants
Abstract
Our capacity to sequence human genomes has exceeded our ability to interpret genetic variation. Current genomic annotations tend to exploit a single information type (e.g. conservation) and/or are restricted in scope (e.g. to missense changes). Here, we describe Combined Annotation Dependent Depletion (CADD), a framework that objectively integrates many diverse annotations into a single, quantitative score. We implement CADD as a support vector...
Paper Details
Title
A general framework for estimating the relative pathogenicity of human genetic variants
Published Date
Mar 1, 2014
Journal
Volume
46
Issue
3
Pages
310 - 315
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