gnomAD project

GPTKB entity

Statements (24)
Predicate Object
gptkbp:instanceOf genomics project
gptkbp:citation gptkb:Karczewski_KJ_et_al.,_Nature_2020
gptkbp:dataSource open access
gptkbp:focus human genetic variation
gptkbp:fullName gptkb:Genome_Aggregation_Database
https://www.w3.org/2000/01/rdf-schema#label gnomAD project
gptkbp:includes allele frequency
variant annotation
population stratification
constraint metrics
gptkbp:maintainedBy gptkb:Broad_Institute
gptkbp:numberOfSamples over 140,000
gptkbp:predecessor gptkb:Exome_Aggregation_Consortium_(ExAC)
gptkbp:releaseYear 2016
gptkbp:species gptkb:Homo_sapiens
gptkbp:type genome sequencing
exome sequencing
gptkbp:usedFor population genetics
rare disease research
variant interpretation
reference population allele frequencies
gptkbp:website https://gnomad.broadinstitute.org/
gptkbp:bfsParent gptkb:Konrad_J._Karczewski
gptkbp:bfsLayer 7