The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community (from https://gnomad.broadinstitute.org).

Prefix

gnomad

License

CC0-1.0

Links

Homepage Request Discussion

Contact

Heidi L. Rehm   0000-0002-6025-0015   heidirehm

Pattern for Local Unique Identifiers

Missing LUI pattern

Example Local Unique Identifiers

1-55516888-G-GA   Resolve
M-8602-T-C   Resolve
DUP_2_5708   Resolve

Example CURIEs

gnomad:1-55516888-G-GA
gnomad:M-8602-T-C
gnomad:DUP_2_5708

Publications

• 2020 The mutational constraint spectrum quantified from variation in 141,456 humans
• 2020 A structural variation reference for medical and population genetics

Contributors

• submitter Charles Tapley Hoyt   0000-0003-4423-4370   cthoyt

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

In Collection

Global Biodata Coalition - Global Core Biodata Resources

The metaregistry provides mappings between the Bioregistry and other registries. There are 1 mappings to external registries for this resource 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 1-55516888-G-GA is used to demonstrate the providers available for Genome Aggregation Database. A guide for curating additional providers can be found here.