gptkbp:instanceOf
|
gptkb:software
|
gptkbp:availableOn
|
gptkb:REST_API
gptkb:graphical_user_interface
gptkb:mobile_application
|
gptkbp:citation
|
McLaren W, et al. (2016) Genome Biology 17:122
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gptkbp:developedBy
|
gptkb:European_Bioinformatics_Institute
Ensembl project
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gptkbp:documentation
|
https://www.ensembl.org/info/docs/tools/vep/index.html
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gptkbp:firstReleased
|
2012
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gptkbp:format
|
gptkb:JSON
VCF
tab-delimited
rsID
HGVS
|
gptkbp:fullName
|
Ensembl Variant Effect Predictor
|
gptkbp:hasSpecies
|
gptkb:dog
gptkb:human
gptkb:livestock
gptkb:meat
gptkb:mouse
gptkb:zebrafish
gptkb:cat
right
many other species
|
https://www.w3.org/2000/01/rdf-schema#label
|
Ensembl VEP
|
gptkbp:integratesWith
|
gptkb:COSMIC
gptkb:ClinVar
gptkb:dbSNP
gptkb:Ensembl_database
gptkb:HGMD
gptkb:gnomAD
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gptkbp:latestReleaseVersion
|
109 (as of 2024)
|
gptkbp:license
|
gptkb:Apache_License_2.0
|
gptkbp:provides
|
SIFT scores
protein annotation
transcript annotation
PolyPhen scores
consequence prediction
custom annotation support
population frequency annotation
regulatory region annotation
|
gptkbp:purpose
|
predict functional effects of genomic variants
|
gptkbp:supportsPluginSystem
|
yes
|
gptkbp:usedFor
|
variant annotation
genome annotation
clinical genomics
|
gptkbp:website
|
https://www.ensembl.org/info/docs/tools/vep/index.html
|
gptkbp:writtenBy
|
gptkb:Perl
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gptkbp:bfsParent
|
gptkb:Gramene_database
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gptkbp:bfsLayer
|
7
|