ExAC study

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instanceOf 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
https://www.w3.org/2000/01/rdf-schema#label ExAC study
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