Disease model curation improvements at Mouse Genome Informatics

Abstract

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. DATABASE URL: http://www.informatics.jax.org/

Figure 1

Allele detail page for Adcy5^tm1Yish, arrow indicates the structured text disease annotation in the ‘Notes’ section of the page.

Figure 2

Partial search results from MGI for the keyword ‘Parkinson’. Users currently have no simple way to create a unified set of all mouse models of Parkinson disease.

Figure 3

(A) Section of the OMIM to MeSH mapping spreadsheet. Arrow indicates the MGI-specific field (MGI_Action_CD) used to generate the extended version of MEDIC. M, merge; L, leaf. (B) Graphical display of the OMIM terms Aicardi–Goutieres syndromes 1–4 within MEDIC, all four OMIM terms are merged with the MeSH term Aicardi–Goutieres syndrome. (C) Graphical display of the OMIM terms Aicardi–Goutieres syndromes 1–4 within MEDIC as used at MGI, all four OMIM terms are child terms to the MeSH term Aicardi–Goutieres syndrome.