@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 .