|
gptkbp:instanceOf
|
gptkb:software
|
|
gptkbp:accessibleBy
|
gptkb:REST_API
gptkb:mobile_application
command line tool
|
|
gptkbp:alternativeTo
|
gptkb:SIFT
gptkb:MutationTaster
gptkb:PolyPhen
gptkb:REVEL
|
|
gptkbp:availableOn
|
periodically
|
|
gptkbp:citation
|
gptkb:Kircher_M,_et_al._Nature_Genetics_2014
over 3000 (as of 2024)
|
|
gptkbp:developedBy
|
gptkb:Daniel_MacArthur
gptkb:Martin_Kircher
gptkb:Jay_Shendure
|
|
gptkbp:featureCount
|
over 60 annotations per variant
|
|
gptkbp:featureSources
|
gptkb:ENCODE
gptkb:1000_Genomes_Project
Conservation scores
Functional genomics data
|
|
gptkbp:firstPublished
|
2014
|
|
gptkbp:format
|
VCF
tab-delimited
|
|
gptkbp:fullName
|
Combined Annotation Dependent Depletion scores
|
|
gptkbp:higherScoreMeans
|
more likely to be deleterious
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CADD scores
|
|
gptkbp:input
|
genomic variant
|
|
gptkbp:latestReleaseVersion
|
gptkb:CADD_v1.7
|
|
gptkbp:license
|
free for academic use
|
|
gptkbp:output
|
numerical score
|
|
gptkbp:outputInterpretation
|
higher scores indicate higher likelihood of pathogenicity
|
|
gptkbp:publishedIn
|
gptkb:Nature_Genetics
|
|
gptkbp:relatedTo
|
functional annotation
variant effect prediction
|
|
gptkbp:scoredFor
|
typically 0 to 99
|
|
gptkbp:scoreThreshold
|
score >20 often considered deleterious
|
|
gptkbp:speciesSupported
|
gptkb:human
|
|
gptkbp:supportsAlgorithm
|
gptkb:machine_learning
|
|
gptkbp:trainer
|
simulated and observed variants
|
|
gptkbp:usedBy
|
clinicians
geneticists
bioinformaticians
|
|
gptkbp:usedFor
|
predicting deleteriousness of genetic variants
|
|
gptkbp:usedIn
|
population genetics
cancer genomics
genetic research
clinical genomics
personal genomics
rare disease variant prioritization
|
|
gptkbp:website
|
https://cadd.gs.washington.edu/
|
|
gptkbp:bfsParent
|
gptkb:dbNSFP
|
|
gptkbp:bfsLayer
|
6
|