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

Pattern for CURIES

Could not construct CURIE pattern

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

Providers are various services that resolve CURIEs to URLs. The example CURIE gnomad:1-55516888-G-GA is used to demonstrate the provides available for gnomad. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.