COSMIC is a comprehensive global resource for information on somatic mutations in human cancer, combining curation of the scientific literature with tumor resequencing data from the Cancer Genome Project at the Sanger Institute, U.K. This collection references genes.

Comment

Is this just HGNC Gene symbols?

Prefix

cosmic

Keywords

biomedical science genetics

Links

Homepage

Contact

John G Tate   0000-0002-8315-6574   jgtate

Pattern for Local Unique Identifiers

Local identifiers in COSMIC Gene should match this regular expression:
^[A-Z0-9][A-Z0-9-]*$

Example Local Unique Identifier

BRAF   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from COSMIC Gene should match this regular expression:
^cosmic:[A-Z0-9][A-Z0-9-]*$

Example CURIE

cosmic:BRAF

Publications

• 2019 COSMIC: the Catalogue Of Somatic Mutations In Cancer
• 2014 COSMIC: exploring the world's knowledge of somatic mutations in human cancer
• 2010 COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
• 2004 The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

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

In Collection

FHIR External Terminologies

The metaregistry provides mappings between the Bioregistry and other registries. There are 6 mappings to external registries for this resource with 3 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 BRAF is used to demonstrate the providers available for COSMIC Gene. A guide for curating additional providers can be found here.