Mapping the Gene Ontology Into the Unified Medical Language System

摘要

We have recently mapped the Gene Ontology (GO), developed by the Gene OntologyConsortium, into the National Library of Medicine's Unified Medical LanguageSystem (UMLS). GO has been developed for the purpose of annotating gene productsin genome databases, and the UMLS has been developed as a framework forintegrating large numbers of disparate terminologies, primarily for the purpose ofproviding better access to biomedical information sources. The mapping of GO toUMLS highlighted issues in both terminology systems. After some initial explorationsand discussions between the UMLS and GO teams, the GO was integrated with theUMLS. Overall, a total of 23% of the GO terms either matched directly (3%) orlinked (20%) to existing UMLS concepts. All GO terms now have a corresponding,official UMLS concept, and the entire vocabulary is available through the web-basedUMLS Knowledge Source Server. The mapping of the Gene Ontology, with its focuson structures, processes and functions at the molecular level, to the existing broadcoverage UMLS should contribute to linking the language and practices of clinicalmedicine to the language and practices of genomics.