Genome Aggregation Database

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:database
gptkbp:abbreviation gptkb:gnomAD
gptkbp:availableOn periodically
gptkbp:citation gptkb:Karczewski_KJ_et_al.,_Nature_2020
gptkbp:focus human genetic variation
https://www.w3.org/2000/01/rdf-schema#label Genome Aggregation Database
gptkbp:license open access
gptkbp:maintainedBy gptkb:Broad_Institute
gptkbp:numberOfSamples over 140,000
gptkbp:predecessor gptkb:Exome_Aggregation_Consortium
gptkbp:provides genome sequencing
exome sequencing
gptkbp:releaseYear 2016
gptkbp:species gptkb:Homo_sapiens
gptkbp:type allele frequency
variant annotation
genotype data
gptkbp:usedFor genetic research
variant interpretation
reference population frequencies
gptkbp:website https://gnomad.broadinstitute.org/
gptkbp:bfsParent gptkb:gnomAD
gptkbp:bfsLayer 5