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.
Local identifiers in ExAC Gene should match this
Compact URIs (CURIEs) constructed from ExAC Gene should match
this regular expression:
The metaregistry provides mappings between the Bioregistry and other registries. There are
3 mappings to external registries for
|Registry Name||Metaprefix||External Prefix|
Providers are various services that resolve CURIEs to URLs. The example CURIE
exac.gene:ENSG00000169174 is used to demonstrate the provides available for
exac.gene. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.