|
gptkbp:instanceOf
|
genomic database
|
|
gptkbp:availableOn
|
periodically
|
|
gptkbp:citation
|
gptkb:Karczewski_KJ_et_al.,_Nature_2020
|
|
gptkbp:dataUsePolicy
|
research use only
|
|
gptkbp:focus
|
human genetic variation
rare disease research
variant interpretation
population diversity
|
|
gptkbp:format
|
gptkb:JSON
TSV
VCF
Hail Table
|
|
gptkbp:fullName
|
gptkb:Genome_Aggregation_Database
|
|
gptkbp:fundedBy
|
gptkb:Broad_Institute
gptkb:National_Institutes_of_Health
|
|
gptkbp:hasBrowser
|
true
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GnomAD
|
|
gptkbp:includes
|
allele frequency
structural variants
variant annotation
ancestry information
loss-of-function variants
missense variants
population stratification
quality metrics
sample metadata
synonymous variants
constraint metrics
mitochondrial DNA data
sex chromosome data
|
|
gptkbp:latestReleaseVersion
|
v2.1.1
v3.1.2
|
|
gptkbp:location
|
gptkb:Cambridge,_Massachusetts,_USA
|
|
gptkbp:mainLanguage
|
English
|
|
gptkbp:maintainedBy
|
gptkb:Broad_Institute
|
|
gptkbp:openAccess
|
true
|
|
gptkbp:predecessor
|
gptkb:ExAC
|
|
gptkbp:principalInvestigator
|
gptkb:Konrad_Karczewski
gptkb:Daniel_MacArthur
|
|
gptkbp:provides
|
over 140,000 human exomes and genomes
|
|
gptkbp:relatedTo
|
gptkb:ExAC
gptkb:TOPMed
gptkb:1000_Genomes_Project
gptkb:UK_Biobank
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:supportedBy
|
true
|
|
gptkbp:type
|
genome sequencing
exome sequencing
|
|
gptkbp:usedFor
|
clinical genetics
population genetics research
variant frequency analysis
|
|
gptkbp:website
|
https://gnomad.broadinstitute.org/
|
|
gptkbp:bfsParent
|
gptkb:dbSNP
|
|
gptkbp:bfsLayer
|
6
|