Exome Aggregation Consortium

URI: https://gptkb.org/entity/Exome_Aggregation_Consortium
GPTKB entity
Statements (27)
Predicate Object
gptkbp:instanceOf scientific consortium
gptkbp:abbreviation gptkb:ExAC
gptkbp:collaboratesWith international research groups
gptkbp:database gptkb:ExAC_database
gptkbp:dataSource population studies
sequencing projects
disease-specific studies
gptkbp:focus population genetics
genetic variation
human exome sequencing
gptkbp:hostedBy gptkb:Broad_Institute
https://www.w3.org/2000/01/rdf-schema#label Exome Aggregation Consortium
gptkbp:location gptkb:Cambridge,_Massachusetts,_USA
gptkbp:notableProject gptkb:ExAC_database
gptkbp:notablePublication gptkb:Lek_et_al.,_Nature_2016
gptkbp:numberOfSamples over 60,000 exomes
gptkbp:purpose aid interpretation of rare genetic variants
catalogue genetic variation in human exomes
gptkbp:releaseYear 2016
gptkbp:status superseded by gnomAD
gptkbp:successor gptkb:Genome_Aggregation_Database
gptkb:gnomAD
gptkbp:type exome sequencing data
variant frequency data
gptkbp:website http://exac.broadinstitute.org
gptkbp:bfsParent gptkb:Karczewski_KJ_et_al.,_Nature_2020
gptkbp:bfsLayer 5