CADD: predicting the deleteriousness of variants throughout the human genome
Abstract
Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders. CADD is an integrative annotation built from more than 60 genomic features, and can score human single nucleotide variants and short insertion and deletions anywhere in the reference assembly. CADD uses a...
Paper Details
Title
CADD: predicting the deleteriousness of variants throughout the human genome
Published Date
Oct 29, 2018
Journal
Volume
47
Issue
D1
Pages
D886 - D894
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