Methods Inf Med 2010; 49(02): 135-140
DOI: 10.3414/ME9302
Special Topic – Original Articles
Schattauer GmbH

Putting Biomedical Ontologies to Work

B. Smith
1   Institute of Formal Ontology and Medical Information Science, Saarland University, Saarbrücken, Germany
2   Department of Philosophy and New York State Center of Excellence in Bioinformatics and Life Sciences, University at Buffalo, Buffalo, NY, USA
,
M. Brochhausen
1   Institute of Formal Ontology and Medical Information Science, Saarland University, Saarbrücken, Germany
› Author Affiliations
Further Information

Publication History



05 February 2010

Publication Date:
17 January 2018 (online)

Summary

Objectives: Biomedical ontologies exist to serve integration of clinical and experimental data, and it is critical to their success that they be put to widespread use in the annotation of data. How, then, can ontologies achieve the sort of user-friendliness, reliability, cost-effectiveness, and breadth of coverage that is necessary to ensure extensive usage?

Methods: Our focus here is on two different sets of answers to these questions that have been proposed, on the one hand in medicine, by the SNOMED CT community, and on the other hand in biology, by the OBO Foundry. We address more specifically the issue as to how adherence to certain development principles can advance the usability and effectiveness of an ontology or terminology resource, for example by allowing more accurate maintenance, more reliable application, and more efficient interoperation with other ontologies and information resources.

Results: SNOMED CT and the OBO Foundry differ considerably in their general approach. Nevertheless, a general trend towards more formal rigor and cross-domain interoperability can be seen in both and we argue that this trend should be accepted by all similar initiatives in the future.

Conclusions: Future efforts in ontology development have to address the need for harmonization and integration of ontologies across disciplinary borders, and for this, coherent formalization of ontologies is a prerequisite.

 
  • References

  • 1 Medical Subject Headings (Internet).. Bethesda (MD): U S. National Library of Medicine.. Available from: http://www.nlm.nih.gov/mesh. Last accessed January 17, 2010
  • 2 Health Level Seven International, Ann Arbor (MI).. Available from: http://www.hl7.org. Last accessed January 17, 2010
  • 3 The Gene Ontology Consortium.. 2004 The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res 32: D258-D261. Available from: http://www.geneontology.org. Last accessed January 17, 2010
  • 4 Smith B, Ashburner M, Rosse C, Bard J, Bug W, Ceusters W. et al. The OBO Foundry: Coordinated evolution of ontologies to support biomedical data integration. Nature Biotechnology 2007 pp 1251-1255. Available from http://obofoundry.org/. Last accessed January 17, 2010
  • 5 Ruttenberg A, Clark T, Bug W, Samwald M, Bodenreider O, Chen H. et al. Advancing translational research with the Semantic Web. BMC Bioinformatics 2007; 8 (03) S2.
  • 6 Smith B, Brochhausen M. Establishing and Harmonizing Ontologies in an Interdisciplinary Health Care and Clinical Research Environment. In: Blobel B, Pharow P, Nerlich M. editors. eHealth: Combining Health Telematics, Telemedicine, Biomedical Engineering and Bioinformatics to the Edge. Amsterdam: IOS Press; 2008. pp 219-234.
  • 7 Charter of the Semantic Web Health Care and Life Sciences (HCLS) Interest Group.. World Wide Web (W3C) Consortium. Available at: http://www.w3.org/2008/05/HCLSIGCharter. Last accessed January 17, 2010
  • 8 Open GALEN Mission Statement.. Available from: http://www.opengalen.org. Last accessed January 17, 2010
  • 9 Ceusters W, Smith B, Goldberg L. A Terminological and Ontological Analysis of the NCI Thesaurus. Methods Inf Med 2005; 44: 498-507. The NCI Thesaurus is available from: http://nciterms.ncinih.gov/ncitbrowser/. Last accessed January 17, 2010.
  • 10 International Health Terminology Standards Development Organisation,. SNOMED CT: Systematized Nomenclature of Medicine-Clinical Terms. Available from: http://www.ihtsdo.org/snomed-ct. Last accessed January 17, 2010
  • 11 Rubin DL, Noy NF, Richter JB. et al. The National Center for Biomedical Ontology: Advancing Biomedicine through Structured Organization of Scientific Knowledge. OMICS: A Journal of Integrative Biology, 2006; 10 (02) 185-198. Available from: http://bioontology.org. Last accessed January 17, 2010.
  • 12 Gene Ontology Consortium.. File Format Guide. Available from: http://www.geneontology.org/GO. format.shtml. Last accessed January 17, 2010
  • 13 Gene Ontology Consortium.. Gene Ontology Annotation Database. European Bioinformatics Institute.; Available from: http://www.ebi.ac.uk/GOA. Last accessed January 17, 2010
  • 14 OWL 2 Web Ontology Language.. W3C Recommendation. 27 October 2009. Available from: http://www.w3.org/TR/owl2-syntax. Last accessed January 17, 2010
  • 15 OBO-OWL RESTful Conversion API. Berkeley (CA): Berkeley Bioinformatics Ontology Project.. Available from: http://www.berkeleybop.org/oboconv.cgi. Last accessedJanuary 17 2010
  • 16 Moreira DA, Musen MA. OBO to OWL: A Protégé tab to read/save OBO ontologies. Bioinformatics 2007; 23 (14) 1826-1870.
  • 17 Ceusters W, Spackman KA, Smith B. Would SNOMED CT benefit from realism-based ontology evolution?. AMIA Annu Symp Proc 2007; 11: 105-109.
  • 18 Schulz S, Suntisrivaraporn B, Baader F. SNOMED CT’s Problem List: Ontologists’ and Logicians’ Therapy Suggestions. Stud Health Technol Inform 2007; 129: 802-806.
  • 19 Smith B, Kusnierczyk W, Schober D, Ceusters W. Towards a reference terminology for ontology research and development in the biomedical domain. KR-MED 2006, biomedical ontology in action. Baltimore MD: 2006
  • 20 Cimino JJ. Desiderata for controlled medical vocabularies in the Twenty-First Century. Methods Inf Med 1998; 37 4–5 394-403.
  • 21 Bodenreider O, Smith B, Burgun A. The Ontology-Epistemology Divide: A Case Study in Medical Terminology. In: Varzi A, Vieu L. editors. Proc of the Int Conf on Formal Ontology and Information Systems (FOIS 2004), Turin, November 4-6, 2004. Amsterdam: IOS-Press; 2004. pp 185-195.
  • 22 Andrews JE, Richesson RL, Krischer J. Variation of SNOMED CT coding of clinical research concepts among coding experts. J Am Med Inform Assoc 2007; 14 (04) 497-506.
  • 23 Chiang MF, Hwang JC, Yu AC, Casper DS, Cimino JJ, Starren J. Reliability of SNOMED-CT coding by three physicians using two terminology browsers. AMIA Annu Symp Proc 2006 pp 131-135.
  • 24 Smith B, Williams J, Schulze-Kremer S. The Ontology of the Gene Ontology. AMIA Annu Symp Proc 2003 pp 609-613.
  • 25 Smith B, Köhler J, Kumar A. On the Application of Formal Principles to Life Science Data: A Case Study in the Gene Ontology. In: Proceedings of DILS 2004 (Data Integration in the Life Sciences). Lecture Notes in Bioinformatics 2994. Berlin: Springer; 2004. pp 79-94.
  • 26 Smith B, Ceusters W, Klagges B, Köhler J, Kumar A, Lomax J, Mungall C, Neuhaus F, Rector AL, Rosse C. Relations in biomedical ontologies. Genome Biol 2005; 6 (05) R46. Available at: http://genomebiology.com/2005/6/5/R46. Last accessed January 17, 2010.
  • 27 The Foundational Model of Anatomy (Internet). Seattle (WA): Structural Informatics Group, University of Washington. ©2008–10 (cited 2010 Jan 17). Structural Informatics Group, University of Washington; (1 screen). Available from: http://sig.biostr.washington.edu/projects/fm.
  • 28 Rosse C, Mejino Jr JV. A reference ontology for biomedical informatics: the Foundational Model of Anatomy. J Biomed Inform 2003; 36 (06) 478-500.
  • 29 International Health Terminology Standards Development Organisation (Internet). Copenhagen (Denmark): International Health Terminology Standards Development Organisation. ©2010 (cited 2010 Jan 17). Available from: www.ihtsdo.org.
  • 30 Donnelly K. Multilingual documentation and classification. In: Blobel B, Pharow P, Nerlich M. editors. eHealth: Combining Health Telematics, Telemedicine, Biomedical Engineering and Bioinformatics to the Edge. Amsterdam: IOS Press; 2008. pp 235-244.
  • 31 Rector A. Terminologies, Ontologies, & SNOMED (Internet). Freiburg (Germany): Institute of Medical Biometry and Medical Informatics; ©2006-10 (updated 2006 Oct 24; cited 2010 Jan 17). Health Informatics World Wide (67 pages). Available from: www.hiww.org/smcs2006/talks/Rector. ppt.
  • 32 Basic Formal Ontology (Internet). Saarbrücken (Germany): ©2006-10 (updated 2009 Nov 5; cited 2010 Jan 17). Institute for Formal Ontology and Medical Information Science (about 2 screens). Available from: http://www.ifomis.org/bfo.
  • 33 Grenon P, Smith B, Goldberg L. Biodynamic Ontology: Applying BFO in the Biomedical Domain. In: Pisanelli DM. editor. Ontologies in Medicine. Amsterdam: IOS Press; 2004. pp 20-38.
  • 34 Smith B. From Concepts to Clinical Reality: An Essay on the Benchmarking of Biomedical Terminologies. J Biomed Inform 2006; 39 (03) 288-298.
  • 35 Weber S. The Success of Open Source. Cambridge, MA: Harvard University Press; 2004
  • 36 Smith B. Ontology (Science). In: Eschenbach C, Grüninger M. editors. Proceeding of the 2008 Conference on Formal Ontology in Information Systems: Proceedings of the Fifth international Conference (FOIS 2008) Frontiers in Artificial Intelligence and Applications, vol. 183. Amsterdam: IOS Press; 2008. pp 21-35.