@prefix biocontext: . @prefix bioregistry: . @prefix bioregistry.metaresource: . @prefix bioregistry.schema: . @prefix dcterms: . @prefix foaf: . @prefix miriam: . @prefix n2t: . @prefix rdfs: . @prefix skos: . @prefix xsd: . bioregistry.metaresource:biocontext dcterms:hasPart biocontext:EXAC.GENE . bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:exac.gene . bioregistry.metaresource:miriam dcterms:hasPart miriam:exac.gene . bioregistry.metaresource:n2t dcterms:hasPart n2t:exac.gene . bioregistry:exac.gene a bioregistry.schema:0000001 ; rdfs:label "ExAC Gene" ; dcterms:description "The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data pertains to unrelated individuals sequenced as part of various disease-specific and population genetic studies and serves as a reference set of allele frequencies for severe disease studies. This collection references gene information."^^xsd:string ; dcterms:isPartOf bioregistry.metaresource:bioregistry ; skos:exactMatch biocontext:EXAC.GENE, n2t:exac.gene, miriam:exac.gene ; foaf:homepage ; bioregistry.schema:0000005 "ENSG00000169174"^^xsd:string ; bioregistry.schema:0000006 "http://exac.broadinstitute.org/gene/$1"^^xsd:string ; bioregistry.schema:0000008 "^ENSG\\d{11}$"^^xsd:string ; bioregistry.schema:0000012 false ; bioregistry.schema:0000024 "http://exac.broadinstitute.org/gene/"^^xsd:string ; bioregistry.schema:0000027 ; bioregistry.schema:0000029 "exac.gene" . biocontext:EXAC.GENE dcterms:isPartOf bioregistry.metaresource:biocontext . n2t:exac.gene dcterms:isPartOf bioregistry.metaresource:n2t . miriam:exac.gene dcterms:isPartOf bioregistry.metaresource:miriam .