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 transcript information.
exac.transcript
Local identifiers in ExAC Transcript should match this
regular expression:
^ENST\d{11}$
Compact URIs (CURIEs) constructed from ExAC Transcript should match
this regular expression:
^exac\.transcript:ENST\d{11}$
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.TRANSCRIPT
|
|
Identifiers.org
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miriam |
exac.transcript
|
|
N2T
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n2t |
exac.transcript
|
Providers are various services that resolve CURIEs to URLs. The example CURIE
None:ENST00000407236
is used to demonstrate the provides available for
this resource. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.