Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_research_project
|
| gptkbp:datasetSize |
over 60,000 exomes
|
| gptkbp:focus |
exome sequencing
human genetic variation |
| gptkbp:fullName |
Exome Aggregation Consortium study
|
| gptkbp:goal |
catalogue genetic variation in protein-coding regions
|
| gptkbp:memberSchool |
gptkb:Broad_Institute
|
| gptkbp:principalInvestigator |
gptkb:Daniel_MacArthur
|
| gptkbp:publicationYear |
2016
|
| gptkbp:publishedIn |
gptkb:Nature
|
| gptkbp:resultedIn |
gptkb:ExAC_database
|
| gptkbp:startYear |
2014
|
| gptkbp:successor |
gnomAD study
|
| gptkbp:usedFor |
rare disease variant interpretation
|
| gptkbp:website |
http://exac.broadinstitute.org/
|
| gptkbp:bfsParent |
gptkb:Comprehensive_catalog_of_protein-coding_genetic_variation_in_60,706_humans
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
ExAC study
|