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 variant information.
The metaregistry provides mappings between the Bioregistry and other registries. There are
3 mappings to external registries for
Providers are various services that resolve CURIEs to URLs. The example CURIE
exac.variant:22-46615880-T-C is used to demonstrate the provides available for
exac.variant. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.