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

Volume: 46, Issue: 3, Pages: 310 - 315
Published: Mar 1, 2014
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
Volume
46
Issue
3
Pages
310 - 315
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