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gptkbp:instanceOf
|
bioinformatics database
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|
gptkbp:citation
|
Hubbard TJ et al. (2002) Genome Res. 12(6):996-1006
Hunt SE et al. (2018) Nucleic Acids Res. 46(D1):D939-D946
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gptkbp:dataSource
|
gptkb:COSMIC
gptkb:ClinVar
gptkb:ExAC
gptkb:dbSNP
gptkb:HGMD
gptkb:1000_Genomes_Project
gptkb:gnomAD
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gptkbp:focusesOn
|
genetic variation
|
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gptkbp:format
|
VCF
tab-delimited
GVF
|
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gptkbp:frequency
|
quarterly
|
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gptkbp:hasSpecies
|
gptkb:dog
gptkb:human
gptkb:livestock
gptkb:meat
gptkb:mouse
gptkb:zebrafish
right
other vertebrates
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Ensembl Variation
|
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gptkbp:maintainedBy
|
gptkb:European_Bioinformatics_Institute
|
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gptkbp:partOf
|
Ensembl project
|
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gptkbp:provides
|
gptkb:SNPs
population genetics
structural variants
phenotype associations
indels
disease associations
copy number variants
|
|
gptkbp:providesAPIs
|
gptkb:REST_API
gptkb:Perl_API
|
|
gptkbp:providesTools
|
gptkb:Variant_Effect_Predictor
|
|
gptkbp:usedFor
|
genome annotation
clinical genomics
disease research
variant interpretation
population genetics studies
|
|
gptkbp:website
|
https://www.ensembl.org/info/genome/variation/index.html
|
|
gptkbp:bfsParent
|
gptkb:Ensembl_genome_browser
|
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gptkbp:bfsLayer
|
6
|