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.
- Prefix
exac.variant- Links
- Homepage
- Contact
- Missing Contact
- Pattern for Local Unique Identifiers
-
Local identifiers in ExAC Variant should match this regular expression:
^\d{1,2}\-\d+\-[GATC]\-[GATC]$ - Example Local Unique Identifier
- 22-46615880-T-C Resolve
- Pattern for CURIES
-
Compact URIs (CURIEs) constructed from ExAC Variant should match this regular expression:
^exac\.variant:\d{1,2}\-\d+\-[GATC]\-[GATC]$ - Example CURIE
- exac.variant:22-46615880-T-C
Ontology
A summary of the relations in the Bioregistry schema can be found here.
- In Collection
- Synapse.org external links
Metaregistry ExAC Variant
The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for this resource with 1 unique external prefixes.
| Registry Name | Registry Metaprefix | External Prefix | Curate |
|---|---|---|---|
| BioContext | biocontext |
EXAC.VARIANT
|
|
Identifiers.org
|
miriam |
exac.variant
|
|
N2T
|
n2t |
exac.variant
|
Providers
A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).
The local unique identifier 22-46615880-T-C is used to demonstrate the providers
available for ExAC Variant. Some providers may use a different example, which is displayed in the table below.
A guide for curating additional providers can be found
here.