dc.contributor.author
Rentzsch, Philipp
dc.contributor.author
Witten, Daniela
dc.contributor.author
Cooper, Gregory M.
dc.contributor.author
Shendure, Jay
dc.contributor.author
Kircher, Martin
dc.date.accessioned
2019-05-16T15:59:10Z
dc.date.available
2019-05-16T15:59:10Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/24589
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-2352
dc.description.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 machine learning model trained on a binary distinction between simulated de novo variants and variants that have arisen and become fixed in human populations since the split between humans and chimpanzees; the former are free of selective pressure and may thus include both neutral and deleterious alleles, while the latter are overwhelmingly neutral (or, at most, weakly deleterious) by virtue of having survived millions of years of purifying selection. Here we review the latest updates to CADD, including the most recent version, 1.4, which supports the human genome build GRCh38. We also present updates to our website that include simplified variant lookup, extended documentation, an Application Program Interface and improved mechanisms for integrating CADD scores into other tools or applications. CADD scores, software and documentation are available at https://cadd.gs.washington.edu.
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
Combined Annotation-Dependent Depletion (CADD)
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
CADD: predicting the deleteriousness of variants throughout the human genome
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.doi
10.1093/nar/gky1016
dcterms.bibliographicCitation.journaltitle
Nucleic Acids Research
dcterms.bibliographicCitation.number
D1
dcterms.bibliographicCitation.originalpublishername
Oxford University Press
dcterms.bibliographicCitation.pagestart
D886
dcterms.bibliographicCitation.pageend
D894
dcterms.bibliographicCitation.volume
47
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
30371827
dcterms.isPartOf.issn
0305-1048
dcterms.isPartOf.issn
1362-4962
dcterms.isPartOf.issn
0301-5610