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Disease model curation improvements at Mouse Genome Informatics.

Susan M Bello1, Joel E Richardson, Allan P Davis

  • 1Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, ME 04609, USA. smb@informatics.jax.org

Database : the Journal of Biological Databases and Curation
|March 22, 2012
PubMed
Summary

Mouse Genome Informatics (MGI) improved human disease curation by merging Medical Subject Headings (MeSH) and Online Mendelian Inheritance in Man (OMIM) vocabularies. This structured approach enhances disease annotation for genetic research.

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Area of Science:

  • Bioinformatics
  • Genomics
  • Medical Informatics

Background:

  • Optimal human disease curation requires a stable, structured vocabulary supporting multiple annotation levels.
  • Mouse Genome Informatics (MGI) currently uses Online Mendelian Inheritance in Man (OMIM) for curating mouse models of human disease.
  • OMIM offers detailed disease records but lacks hierarchical structure for multilevel annotation.

Purpose of the Study:

  • To evaluate the merged Medical Subject Headings (MeSH) and OMIM disease vocabulary from the Comparative Toxicogenomics Database (CTD).
  • To improve disease annotation granularity and stability at MGI.
  • To create an extended vocabulary tailored for genetic disease-specific curation.

Main Methods:

  • Evaluation of the CTD's merged MeSH and OMIM disease vocabulary.
  • Overlaying MeSH onto OMIM to introduce hierarchical disease term access.
  • Extension of the combined vocabulary to meet MGI's genetic disease curation requirements.

Main Results:

  • The merged MeSH and OMIM vocabulary provides hierarchical access to disease terms, a feature absent in OMIM alone.
  • An extended vocabulary was developed, enhancing MGI's capacity for genetic disease-specific curation.
  • The study details the evaluation of the CTD resource and MGI's vocabulary extensions.

Conclusions:

  • Merging MeSH and OMIM, with extensions, offers a robust, hierarchical vocabulary for improved disease annotation.
  • This approach addresses limitations in existing vocabularies for complex genetic disease research.
  • The developed resource enhances the quality and efficiency of disease curation at MGI.