Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genomic database
|
| gptkbp:availableOn |
gptkb:REST_API
periodically browser interface VCF files |
| gptkbp:citation |
gptkb:Karczewski_KJ_et_al.,_Nature_2020
PMID: 32461654 |
| gptkbp:dataQualityControl |
extensive filtering and QC
|
| gptkbp:dataSource |
publicly available sequencing projects
|
| gptkbp:excludes |
individuals with severe pediatric disease
close relatives |
| gptkbp:firstReleased |
2016
|
| gptkbp:focusesOn |
human genetic variation
|
| gptkbp:fullName |
gptkb:Genome_Aggregation_Database
|
| https://www.w3.org/2000/01/rdf-schema#label |
gnomAD database
|
| gptkbp:includes |
allele frequency
exome sequencing data gene-level summary statistics constraint metrics genome sequencing data loss-of-function intolerance scores per-variant quality metrics variant consequence annotation |
| gptkbp:latestReleaseVersion |
v2.1.1
v3.1.2 |
| gptkbp:license |
open access
|
| gptkbp:maintainedBy |
gptkb:Broad_Institute
|
| gptkbp:population |
gptkb:African/African_American
gptkb:European_(non-Finnish) gptkb:Latino/Admixed_American Ashkenazi Jewish Finnish Other South Asian East Asian |
| gptkbp:provides |
over 140,000 human exomes and genomes
|
| gptkbp:successor |
gptkb:Exome_Aggregation_Consortium_(ExAC)
|
| gptkbp:type |
insertions and deletions
single nucleotide variants structural variants copy number variants |
| gptkbp:usedBy |
gptkb:researchers
clinicians geneticists bioinformaticians |
| gptkbp:usedFor |
clinical variant interpretation
population genetics research reference for allele frequencies |
| gptkbp:website |
https://gnomad.broadinstitute.org/
|
| gptkbp:bfsParent |
gptkb:ExAC_database
|
| gptkbp:bfsLayer |
6
|