Exome Aggregation Consortium (ExAC)
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genomics consortium
|
| gptkbp:abbreviation |
gptkb:ExAC
|
| gptkbp:affiliation |
gptkb:Broad_Institute
|
| gptkbp:application |
population genetics
clinical genetics rare disease research variant interpretation |
| gptkbp:country |
gptkb:United_States
|
| gptkbp:database |
gptkb:ExAC_database
|
| gptkbp:dataSource |
disease-specific and population genetic studies
sequencing projects |
| gptkbp:focus |
exome sequencing
human genetic variation |
| https://www.w3.org/2000/01/rdf-schema#label |
Exome Aggregation Consortium (ExAC)
|
| gptkbp:notablePublication |
gptkb:Lek_et_al.,_Nature_2016
|
| gptkbp:numberOfSamples |
over 60,000 exomes
|
| gptkbp:purpose |
aggregate and analyze exome sequencing data
|
| gptkbp:releaseYear |
2016
|
| gptkbp:successor |
gptkb:gnomAD
|
| gptkbp:type |
exome sequencing data
|
| gptkbp:website |
http://exac.broadinstitute.org/
|
| gptkbp:bfsParent |
gptkb:Genome_Aggregation_Database_(gnomAD)
|
| gptkbp:bfsLayer |
4
|