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

Pattern for Local Unique Identifiers

Local unique 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

Contact

Missing Contact

A summary of the relations in the Semantic Farm schema can be found here.

In Collection (1)

Synapse.org external links

Mappings from records in Semantic Farm to external registries comprises the metaregistry. This resource has 3 mappings to external registries with 1 unique external prefixes.

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.