Skip to main content

Application of Ontologies in Bioinformatics

  • Chapter
  • First Online:

Part of the book series: International Handbooks on Information Systems ((INFOSYS))

Summary

The use of ontologies has become a mainstream activity within bioinformatics. In a largely descriptive science such as biology, the need to have a common understanding of things described is obvious. The need to be able to apply computational methods to the large quantities of data being produced also suggests a computational requirement to standardise descriptions in biology.

As a mechanism for describing the categories of entities and their characteristics, ontologies offer many of the features that can support a descriptive science. The main use of ontologies in bioinformatics has been the delivery of controlled vocabularies. In this chapter we explore this use of ontology, but also other uses, especially those that have a deeper computational aspect. We take a broad view of ontology to include many ontology-like resources and classify the uses of ontology and ontology-like artifacts. We present a series of case studies and conclude by describing the current state and future directions for bio-ontologies.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   349.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   449.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   449.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Notes

  1. 1.

    Here we take a broad definition of bioinformatics to mean the storage, management and analysis of biological data by computational means to answer biological questions.

  2. 2.

    http://www.geneontology.org

  3. 3.

    The less common term “poset” or partially ordered set is also used.

  4. 4.

    http://www.geneontology.org/GO.current.annotations.shtml

  5. 5.

    At least judged by the number of tools available; microarray tools form the largest subsection of related tools on the GO website (http://www.geneontology.org/GO.tools.shtml).

  6. 6.

    In this section, we will talk exclusively about GO, as it is the ontology which has been statistically analysed most widely. Most of the techniques could also apply to other ontologies.

  7. 7.

    The left-hand side of the reaction.

  8. 8.

    The right-hand side of the reaction.

  9. 9.

    The enzyme classification number.

  10. 10.

    http://www.w3.org/2001/sw/HCLS

  11. 11.

    The sequence of amino acid residues in a protein determine how the protein “folds” into a three-dimensional shape. This shape determines the functionality of the protein. Biologists have determined some patterns of amino acid residue that indicate certain features of these “shapes” that are diagnostic for functionality.

References

  1. Gil Alterovitz, Michael Xiang, Mamta Mohan, and Marco F. Ramoni. GO PaD: the gene ontology partition database. Nucleic Acids Research, 35(Suppl 1):D322–327, 2007.

    Article  Google Scholar 

  2. R. Altman, M. Bada, X.J. Chai, M. Whirl Carillo, R.O. Chen, and N.F. Abernethy. RiboWeb: An ontology-based system for collaborative molecular biology. IEEE Intelligent Systems, 14(5):68–76, 1999.

    Article  Google Scholar 

  3. S.F. Altschul, W. Gish, M. Miller, E.W. Myers, and D.J. Lipman. Basic local alignment search tool. Journal of Molecular Biology, 215:403–410, 1990.

    Article  Google Scholar 

  4. S. Ananiadou and B. Stapley, editors. Text mining for biology. IOS Press, 2005.

    Google Scholar 

  5. Michael Bada, Robert Stevens, Carole Goble, Yolanda Gil, Michael Ashburner, Judith A. Blake, J. Michael Cherry, Midori Harris, and Suzanna Lewis. A Short Study on the Success of the Gene Ontology. Web Semantics Science, Services and Agents on the World Wide Web, 1(2):235–240, 2004.

    Google Scholar 

  6. Christopher J.O. Baker, Xiao Su, Volker Haarslev, and Greg Butler. Semantic web infrastructure for fungal enzyme biotechnologists. Web Semantics: Science, Services and Agents on the World Wide Web, 4(3):168–180, September 2006. Special issue on Semantic Web for Life Sciences.

    Google Scholar 

  7. Tim Beissbarth and Terence P. Speed. GOstat: find statistically overrepresented Gene Ontologies within a group of genes. Bioinformatics, 20(9):1464–1465, 2004.

    Article  Google Scholar 

  8. Judith Blake, David Hill, and Barry Smith. Gene ontology annotations: What they mean and where they come from. In: 10th Annual Bio-Ontologies SIG, 2007. http://bio-ontologies.org.uk.

  9. Olivier Bodenreider. Lexical, terminological and ontological resources for biological text mining. In: S. Ananiadou and B. Stapley, editors, Text mining for biology. IOS Press, 2005.

    Google Scholar 

  10. Olivier Bodenreider and Robert Stevens. Bio-ontologies: current trends and future directions. Brief Bioinform, 7(3):256–274, 2006.

    Article  Google Scholar 

  11. James F. Brinkley, Dan Suciu, Landon T. Detwiler, John H. Gennari, and Cornelius Rosse. A framework for using reference ontologies as a foundation for the semantic web. In: Proceedings, American Medical Informatics Association Fall Symposium, pages 96–100, 2006.

    Google Scholar 

  12. UniProt Consortium. The universal protein resource (uniprot). Nucleic Acids Research, 35(Database issue):D193–D197, Jan 2007.

    Google Scholar 

  13. K.D. Dahlquist, N. Salomonis, K. Vranizan, S.C. Lawlor, and B.R. Conklin. GenMAPP, a new tool for viewing and analyzing microarray data on biological pathways. Nature Genetics, 31(1):19–20, 2002.

    Article  Google Scholar 

  14. Selina S Dwight, Rama Balakrishnan, Karen R Christie, Maria C Costanzo, Kara Dolinski, Stacia R Engel, Becket Feierbach, Dianna G Fisk, Jodi Hirschman, Eurie L Hong, Laurie Issel-Tarver, Robert S Nash, Anand Sethuraman, Barry Starr, Chandra L Theesfeld, Rey Andrada, Gail Binkley, Qing Dong, Christopher Lane, Mark Schroeder, Shuai Weng, David Botstein, and J. Michael Cherry. Saccharomyces genome database: underlying principles and organisation. Brief Bioinform, 5(1):9–22, Mar 2004.

    Google Scholar 

  15. C. Fellbaum. Wordnet: an electronic lexical database. Mit Pr, 1998.

    Google Scholar 

  16. Kevin Garwood, Phillip Lord, Helen Parkinson, Norman W. Paton, and Carole Goble. Pedro ontology services: A framework for rapid ontology markup. In: A. Gómez-Pérez and J. Euzenat, editors, European Semantic Web Conference, pages 578–591. Springer, Berlin, 2005.

    Google Scholar 

  17. C.A. Goble, R. Stevens, G. Ng, S. Bechhofer, N.W. Paton, P.G. Baker, M. Peim, and A. Brass. Transparent Access to Multiple Bioinformatics Information Sources. IBM Systems Journal Special issue on deep computing for the life sciences, 40(2):532–552, 2001.

    Google Scholar 

  18. T. R. Gruber. Towards Principles for the Design of Ontologies Used for Knowledge Sharing. In: N. Guarino and R. Poli, editors, Formal Ontology in Conceptual Analysis and Knowledge Representation, Deventer, The Netherlands, 1993. Kluwer, Dordrecht.

    Google Scholar 

  19. V. Haarslev and R. Moller. RACER system description. Proc. of the Int. Joint Conf. on Automated Reasoning (IJCAR 2001), 2083:701–705, 2001.

    Google Scholar 

  20. V. Haarslev, R. Möller, and M. Wessel. Querying the semantic web with racer + nrql. In: Proceedings of the KI-2004 International Workshop on Applications of Description Logics (ADL’04), Ulm, Germany, September 24, 2004.

    Google Scholar 

  21. V. Heijst, G Shreiber, and B. Wielinga. Using explicit ontologies in KBS. International Journal of Human-Computer Studies, 46(2/3):183–292, 1997.

    Article  MATH  Google Scholar 

  22. Andrew R. Jones and Frank Gibson. An update of data standards for gel electrophoresis. Practical Proteomics, 7(S1):35–40,

    Google Scholar 

  23. Cliff A Joslyn, Susan M Mniszewski, Andy Fulmer, and Gary Heaton. The gene ontology categorizer. Bioinformatics, 20 Suppl 1:i169–i177, Aug 2004.

    Google Scholar 

  24. P.D. Karp, M. Riley, M. Saier, I.T. Paulsen, S.M. Paley, and A. Pellegrini-Toole. The EcoCyc and MetaCyc Databases. Nucleic Acids Research, 28:56–59, 2000.

    Article  Google Scholar 

  25. C. Leacock and M. Chodorow. Combining local context and WordNet similarity for word sense identification. WordNet: An Electronic Lexical Database, 49(2):265–283, 1998.

    Google Scholar 

  26. Maurizio Lenzerini. Data integration: a theoretical perspective. In: PODS ’02: Proceedings of the twenty-first ACM SIGMOD-SIGACT-SIGART symposium on Principles of database systems, pages 233–246, New York, NY, USA, 2002. ACM Press.

    Google Scholar 

  27. P.W. Lord, R.D. Stevens, A. Brass, and C.A. Goble. Semantic similarity measures as tools for exploring the Gene Ontology. In: Pacific Symposium on Biocomputing, pages 601–612, 2003.

    Google Scholar 

  28. Joanne Luciano and Robert Stevens. e-science and biological pathway semantics. BMC Bioinformatics, 8(Suppl 3):S3, 2007.

    Article  Google Scholar 

  29. J.S. Luciano. PAX of mind for pathway researchers. Drug Discovery Today, 10:937–42, 2005.

    Article  Google Scholar 

  30. Robert Minchin, Fabio Porto, Christelle Vangenot, and Sven Hartmann. Symptoms ontology for mapping diagnostic knowledge systems. In: CBMS ’06: Proceedings of the 19th IEEE Symposium on Computer-Based Medical Systems, pages 593–598, Washington, DC, USA, 2006. IEEE Computer Society.

    Google Scholar 

  31. Nicola J Mulder, Rolf Apweiler, Teresa K Attwood, Amos Bairoch, Alex Bateman, David Binns, Peer Bork, Virginie Buillard, Lorenzo Cerutti, Richard Copley, Emmanuel Courcelle, Ujjwal Das, Louise Daugherty, Mark Dibley, Robert Finn, Wolfgang Fleischmann, Julian Gough, Daniel Haft, Nicolas Hulo, Sarah Hunter, Daniel Kahn, Alexander Kanapin, Anish Kejariwal, Alberto Labarga, Petra S Langendijk-Genevaux, David Lonsdale, Rodrigo Lopez, Ivica Letunic, Martin Madera, John Maslen, Craig McAnulla, Jennifer McDowall, Jaina Mistry, Alex Mitchell, Anastasia N Nikolskaya, Sandra Orchard, Christine Orengo, Robert Petryszak, Jeremy D Selengut, Christian J A Sigrist, Paul D Thomas, Franck Valentin, Derek Wilson, Cathy H Wu, and Corin Yeats. New developments in the interpro database. Nucleic Acids Res, 35(Database issue):D224–D228, Jan 2007.

    Google Scholar 

  32. Stuart J. Nelson, Douglas Johnston, and Betsy L. Humphreys. Relationships in Medical Subject Headings. In: Rebecca Bean, Carol A.; Green, editor, Relationships in the organization of knowledge, pages 171–184. Kluwer, Dordrecht, 2001.

    Google Scholar 

  33. P.W. Lord, R.D. Stevens, A. Brass, and C.A. Goble. Investigating semantic similarity measures across the Gene Ontology: the relationship between sequence and annotation. Bioinformatics, 19(10):1275–83, 2003.

    Article  Google Scholar 

  34. R. Rada, H. Mili, E. Bicknell, and M. Blettner. Development and application of a metric on semantic nets. Systems, Man and Cybernetics, IEEE Transactions on, 19(1):17–30, 1989.

    Article  Google Scholar 

  35. Alan Rector, Nick Drummond, Matthew Horridge, Jeremy Rogers, Holger Knublauch, Robert Stevens, Hai Wang, and Chris Wroe. OWL pizzas: practical experience of teaching owl-dl: common errors and common patterns. In: 14th International Conference on Knowledge Engineering and Knowledge Management EKAW 2004, pages 63–81, 2004.

    Google Scholar 

  36. P. Resnik. Using information content to evaluate semantic similarity in a taxonomy. IJCAI, pages 448–453, 1995.

    Google Scholar 

  37. Oleg Rokhlenko, Tomer Shlomi, Roded Sharan, Eytan Ruppin, and Ron Y. Pinter. Constraint-based functional similarity of metabolic genes: going beyond network topology. Bioinformatics, page btm319, 2007.

    Google Scholar 

  38. Cornelius Rosse and Jose L. V. Mejino. A reference ontology for bioinformatics: the foundational model of anatomy. Journal of Biomedical Informatics, 36:478–500, 2003.

    Google Scholar 

  39. Daniel L. Rubin, Farhad Shafa, Diane E. Oliver, Micheal Hewett, and Russ B. Altman. Representing genetic sequence data for pharmacogenomics: an evolutionary approach using ontological and relational models. In: Chris Sander, editor, Proceedings of Tenth International Conference on Intelligent Systems for Molecular Biology, volume 18, pages 207–215, 2002.

    Google Scholar 

  40. Alan Ruttenberg, Tim Clark, William Bug, Matthias Samwald, Olivier Bodenreider, Helen Chen, Donald Doherty, Kerstin Forsberg, Yong Gao, Vipul Kashyap, June Kinoshita, Joanne Luciano, M. Scott Marshall, Chimezie Ogbuji, Jonathan Rees, Susie Stephens, Gwen Wong, Elizabeth Wu, Davide Zaccagnini, Tonya Hongsermeier, Eric Neumann, Ivan Herman, and Kei-Hoi Cheung. Advancing translational research with the Semantic Web. BMC Bioinformatics, 8, 2007.

    Google Scholar 

  41. Robert Stevens. Foreword. In: Richard Baldock Albert Burger, Duncan Davidson, editor, Anatomy Ontologies for Bioinformatics, Principles and Practice. Springer, Berlin, November 2008.

    Google Scholar 

  42. Robert Stevens, Phil Lord, and Duncan Hull. Using distributed data and tools in bioinformatics applications. In: Thomas Lengauer, editor, Bioinformatics – From Genomes to Therapies; Volume 3, pages 1627–1649. Wiley-VCH, New York, 2005.

    Google Scholar 

  43. Robert Stevens, Mikel Ega na Aranguren, Katy Wolstencroft, Ulrike Sattler, Nick Drummond, Matthew Horridge, and Alan Rector. Using owl to model biological knowledge. International Journal of Human Computer Studies, 65(7):583–594, 2007. Special issue on limitations of ontology.

    Article  Google Scholar 

  44. Robert Stevens, Chris Wroe, Phillip Lord, and Carole Goble. Ontologies in bioinformatics. In: Stefan Staab and Rudi Studer, editors, Handbook on Ontologies in Information Systems, pages 635–657. Springer, Berlin, 2003.

    Google Scholar 

  45. Ying Tao, Lee Sam, Jianrong Li, Carol Friedman, and Yves A. Lussier. Information theory applied to the sparse gene ontology annotation network to predict novel gene function. Bioinformatics, 23(13):529–538, 2007.

    Article  Google Scholar 

  46. The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nature Genetics, 25:25–29, 2000.

    Article  Google Scholar 

  47. The Gene Ontology Consortium. Creating the gene ontology resource: design and implementation. Genome Research, 11(8):1425–1433, 2001.

    Article  Google Scholar 

  48. M. Uschold and R. Jasper. A framework for understanding and classifying ontology applications, 1999.

    Google Scholar 

  49. H. Wang, F. Azuaje, O. Bodenreider, and J. Dopazo. Gene expression correlation and gene ontology-based similarity: an assessment of quantitative relationships. Computational Intelligence in Bioinformatics and Computational Biology, 2004. CIBCB’04. Proceedings of the 2004 IEEE Symposium on, pages 25–31, 2004.

    Google Scholar 

  50. H. Wang, A. Rector, N. Drummond, M. Horridge, J. Seidenberg, N.F. Noy, M.A. Musen, T. Redmond ad D.L. Rubin, S. Tu, and T. Tudorache. Frames and owl side by side. 9th International Protg Conference. Stanford, CA., 2006.

    Google Scholar 

  51. Patricia L. Whetzel, Helen Parkinson, Helen C. Causton, Liju Fan, Jennifer Fostel, Gilberto Fragoso, Laurence Game, Mervi Heiskanen, Norman Morrison, Philippe Rocca-Serra, Susanna-Assunta Sansone, Chris Taylor, Joseph White, and Christian J. Stoeckert. The mged ontology: a resource for semantics-based description of microarray experiments. Bioinformatics, 22(7):866–873, 2006.

    Article  Google Scholar 

  52. P.L Whetzel, R.R. Brinkman, H.C. Causton, L. Fan, D. Field, J. Fostel, G. Fragaso, T. Gray, M. Heiskanen, T. Hernandez-Boussard, N. Morrison, H. Parkinson, P. Rocca-Serra, S-A. Sansone, D. Schober, B. Smith, R. Stevens, C.J. Stoeckert, C. Taylor, J. White, and A. Wood. the fugo working group development of fugo: An ontology for functional genomics investigations. OMICS: A journal of integrative biology, 10:199–204, June 2006.

    Google Scholar 

  53. K. Wolstencroft, A. Brass, I. Horrocks, P. Lord, U. Sattler, D. Turi, and R. Stevens. A little Semantic Web goes a long way in biology. In: Proc. of the 4th Int. Semantic Web Conf. (ISWC2005), volume 3729/2005 of LNCS, Springer, Berlin, 2005.

    Google Scholar 

  54. K. Wolstencroft, P. Lord, L. Tabernero, A. Brass, and R. Stevens. Protein classification using ontology classification. Bioinformatics, 22(14):e530–538, 2006.

    Article  Google Scholar 

  55. Chris Wroe and Robert Stevens. Ontologies for molecular biology. In: Thomas Lengauer, editor, Bioinformatics - From Genomes to Therapies, pages 1061–1085. Wiley-VCH, New York, 2005.

    Google Scholar 

  56. B.R. Zeeberg, W. Feng, G. Wang, M.D. Wang, A.T. Fojo, M. Sunshine, S. Narasimhan, D.W. Kane, W.C. Reinhold, S. Lababidi, et al. GoMiner: a resource for biological interpretation of genomic and proteomic data. Genome Biol, 4(4):R28, 2003.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding authors

Correspondence to Robert Stevens or Phillip Lord .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Stevens, R., Lord, P. (2009). Application of Ontologies in Bioinformatics. In: Staab, S., Studer, R. (eds) Handbook on Ontologies. International Handbooks on Information Systems. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-92673-3_33

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-92673-3_33

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-70999-2

  • Online ISBN: 978-3-540-92673-3

  • eBook Packages: Computer ScienceComputer Science (R0)

Publish with us

Policies and ethics