ExAC

GPTKB entity

Statements (25)
Predicate Object
gptkbp:instanceOf genomic database
gptkbp:category bioinformatics resource
genetics database
gptkbp:citation Lek M, et al. Nature 2016; 536:285-291.
gptkbp:collaboratesWith international consortium
gptkbp:dataSource publicly available
gptkbp:focus exome sequencing data
gptkbp:fullName gptkb:Exome_Aggregation_Consortium
https://www.w3.org/2000/01/rdf-schema#label ExAC
gptkbp:location gptkb:Cambridge,_Massachusetts,_USA
gptkbp:maintainedBy gptkb:Broad_Institute
gptkbp:provides over 60,000 individuals
gptkbp:releaseYear 2016
gptkbp:successor gptkb:gnomAD
gptkbp:type human exome variants
gptkbp:usedBy geneticists
bioinformaticians
clinical researchers
gptkbp:usedFor rare disease research
variant frequency analysis
gptkbp:website http://exac.broadinstitute.org/
gptkbp:bfsParent gptkb:UCSC_Genome_Browser
gptkb:Exome_Aggregation_Consortium_(ExAC)
gptkb:gnomAD
gptkbp:bfsLayer 5