Journal
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
Volume -, Issue -, Pages -Publisher
OXFORD UNIV PRESS
DOI: 10.1093/database/bar063
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Funding
- National Human Genome Research Institute/National Institutes of Health for the Mouse Genome Database at MGI [HG000330]
- National Institute of Environmental Health Sciences/National Library of Medicine [ES014065]
- National Institute of Environmental Health Sciences [ES014065-04S1]
- National Center for Research Resources at CTD [P20RR016463]
- National Human Genome Research Institute/National Institutes of Health [HG000330]
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Optimal curation of human diseases requires an ontology or structured vocabulary that contains terms familiar to end users, is robust enough to support multiple levels of annotation granularity, is limited to disease terms and is stable enough to avoid extensive reannotation following updates. At Mouse Genome Informatics (MGI), we currently use disease terms from Online Mendelian Inheritance in Man (OMIM) to curate mouse models of human disease. While OMIM provides highly detailed disease records that are familiar to many in the medical community, it lacks structure to support multilevel annotation. To improve disease annotation at MGI, we evaluated the merged Medical Subject Headings (MeSH) and OMIM disease vocabulary created by the Comparative Toxicogenomics Database (CTD) project. Overlaying MeSH onto OMIM provides hierarchical access to broad disease terms, a feature missing from the OMIM. We created an extended version of the vocabulary to meet the genetic disease-specific curation needs at MGI. Here we describe our evaluation of the CTD application, the extensions made by MGI and discuss the strengths and weaknesses of this approach.
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