Robinson-Rechavi 2-day Group Meeting
                    Lausanne, June 4-5 2012




Ontologies in Bioinformatics:
  Growing-up challenges
                  Janna Hastings1,2,3
  1 Cheminformatics and Metabolism, European Bioinformatics Institute
       2 Swiss Center for Affective Sciences, University of Geneva
                   3 Swiss Institute of Bioinformatics
STANDARDS:
               RESEARCH
                                         ANALYSIS:
          REPRODUCABILITY,
                                        ENRICHMENT,
            BIOCURATION,
                                     SEMANTIC SIMILARITY,
          DATA INTEGRATION,
                                             …
              EXCHANGE,
           SEMANTIC WEB
                   …
                             DATABASE
                          MANAGEMENT:
                            BROWSING,
                          VISUALIZATION,
                          CLASSIFICATION,
                           AUTOMATED
                            REASONING,
                                 …




Applications of ontologies in bioinformatics
Growing-up challenges
    for ontologies in bioinformatics
1. Visualization
2. Moving from OBO to OWL –
   tools, software
3. Moving from single ontologies to multiple
   ontologies (using cross-products)
4. Training aimed at biologists and
   bioinformaticians
5. Community building
Selected ontology-related publications (JH @EBI)

• Janna Hastings et al., Structure-based classification and ontology in
  chemistry. Journal of Cheminformatics. 2012 Apr 5; 4:8.
• Barry Hardy, [...] Janna Hastings et al. Toxicology ontology perspectives.
  ALTEX 2012, 29 (2), 139.
• Janna Hastings et al. The Chemical Information Ontology: provenance and
  disambiguation for chemical data on the biological semantic web. PLoS
  ONE, 6(10).
• Melanie Courtot, *…+ Janna Hastings et al. Controlled vocabularies and
  semantics in Systems Biology. Molecular Systems Biology, 7:543.
• Janna Hastings et al., Modularization requirements in bio-ontologies: A
  case study of ChEBI. Frontiers in Artificial Intelligence and Applications
  Volume 230, p. 63--70.
• Kirill Degtyarenko, *…+ Janna Hastings et al., ChEBI: a database and
  ontology for chemical entities of biological interest. Nucleic Acids Res. 36,
  D344-D350.
ChEBI: Chemicals of Biological Interest
1. Ontology visualization




There is a need to hide irrelevant information and concisely display relevant information
ChEBI has introduced a new heuristic for
hiding redundant paths in the visualiation
See also http://ols.wordvis.com/
2. Moving from OBO to OWL




               OBO-Edit is the most commonly
               used bio-ontology editor, but it is
               no longer actively being developed
Protégé is the tool that will replace OBO-Edit, but it urgently needs
investment in usability improvements for use by biologists and curators
APIs for programmaticaly working with
            OWL ontologies
• OWLTools (Java) … wrapper for, and much
  easier to use than, the OWL API (Java)
• OntoCat (R)
• POSH (Prolog, Unix shell)
• InfixOWL (Python)
Normalization of ontologies
  + automated reasoning for hierarchies




                                                         FBbt


Non-Normalized:                                 Normalized:
Only is-a, maybe part-of relations              More relationships
All relevant relations are not asserted, only   More inferred classifications
those found salient by the human annotators     Easier to maintain but harder to navigate
3. Working with multiple ontologies
• Cross-products, e.g. chemicals in GO
  (for terms such as ‘carbohydrate metabolism’)

• No online visualization tools yet are able to
  display cross-products across ontologies
• Most databases don’t support annotation
  with composite terms, necessitating pre-
  composition
4. Training
5. Community building
• ICBO conference
• ISMB Bio-ontologies SIG
   Not well attended by biologists/curators?

 • Bio-curation conference
   Not well attended by ontologists?

 • OBO Foundry                                 COMPUTER SCIENCE
    Not very active lately?
                                                   BIOLOGY


 • OntoSIB
Ontology @Pub nights          Blog: www.bioontology.ch
Thank you, Acknowledgements
Christoph Steinbeck       Barry Smith
Colin Batchelor           Kevin Mulligan
Marcus Ennis              Werner Ceusters
Venkatesh Muthukrishnan   Nicolas le Novere
                          David Osumi-Sutherland
Jane Lomax
Chris Mungall


BBSRC                     FNS (SNF)
EU-OPENSCREEN             EMBL

Bio-ontologies in bioinformatics: Growing up challenges

  • 1.
    Robinson-Rechavi 2-day GroupMeeting Lausanne, June 4-5 2012 Ontologies in Bioinformatics: Growing-up challenges Janna Hastings1,2,3 1 Cheminformatics and Metabolism, European Bioinformatics Institute 2 Swiss Center for Affective Sciences, University of Geneva 3 Swiss Institute of Bioinformatics
  • 2.
    STANDARDS: RESEARCH ANALYSIS: REPRODUCABILITY, ENRICHMENT, BIOCURATION, SEMANTIC SIMILARITY, DATA INTEGRATION, … EXCHANGE, SEMANTIC WEB … DATABASE MANAGEMENT: BROWSING, VISUALIZATION, CLASSIFICATION, AUTOMATED REASONING, … Applications of ontologies in bioinformatics
  • 3.
    Growing-up challenges for ontologies in bioinformatics 1. Visualization 2. Moving from OBO to OWL – tools, software 3. Moving from single ontologies to multiple ontologies (using cross-products) 4. Training aimed at biologists and bioinformaticians 5. Community building
  • 4.
    Selected ontology-related publications(JH @EBI) • Janna Hastings et al., Structure-based classification and ontology in chemistry. Journal of Cheminformatics. 2012 Apr 5; 4:8. • Barry Hardy, [...] Janna Hastings et al. Toxicology ontology perspectives. ALTEX 2012, 29 (2), 139. • Janna Hastings et al. The Chemical Information Ontology: provenance and disambiguation for chemical data on the biological semantic web. PLoS ONE, 6(10). • Melanie Courtot, *…+ Janna Hastings et al. Controlled vocabularies and semantics in Systems Biology. Molecular Systems Biology, 7:543. • Janna Hastings et al., Modularization requirements in bio-ontologies: A case study of ChEBI. Frontiers in Artificial Intelligence and Applications Volume 230, p. 63--70. • Kirill Degtyarenko, *…+ Janna Hastings et al., ChEBI: a database and ontology for chemical entities of biological interest. Nucleic Acids Res. 36, D344-D350.
  • 5.
    ChEBI: Chemicals ofBiological Interest
  • 7.
    1. Ontology visualization Thereis a need to hide irrelevant information and concisely display relevant information
  • 8.
    ChEBI has introduceda new heuristic for hiding redundant paths in the visualiation
  • 9.
  • 10.
    2. Moving fromOBO to OWL OBO-Edit is the most commonly used bio-ontology editor, but it is no longer actively being developed
  • 11.
    Protégé is thetool that will replace OBO-Edit, but it urgently needs investment in usability improvements for use by biologists and curators
  • 12.
    APIs for programmaticalyworking with OWL ontologies • OWLTools (Java) … wrapper for, and much easier to use than, the OWL API (Java) • OntoCat (R) • POSH (Prolog, Unix shell) • InfixOWL (Python)
  • 13.
    Normalization of ontologies + automated reasoning for hierarchies FBbt Non-Normalized: Normalized: Only is-a, maybe part-of relations More relationships All relevant relations are not asserted, only More inferred classifications those found salient by the human annotators Easier to maintain but harder to navigate
  • 14.
    3. Working withmultiple ontologies • Cross-products, e.g. chemicals in GO (for terms such as ‘carbohydrate metabolism’) • No online visualization tools yet are able to display cross-products across ontologies • Most databases don’t support annotation with composite terms, necessitating pre- composition
  • 15.
  • 16.
    5. Community building •ICBO conference • ISMB Bio-ontologies SIG Not well attended by biologists/curators? • Bio-curation conference Not well attended by ontologists? • OBO Foundry COMPUTER SCIENCE Not very active lately? BIOLOGY • OntoSIB Ontology @Pub nights Blog: www.bioontology.ch
  • 17.
    Thank you, Acknowledgements ChristophSteinbeck Barry Smith Colin Batchelor Kevin Mulligan Marcus Ennis Werner Ceusters Venkatesh Muthukrishnan Nicolas le Novere David Osumi-Sutherland Jane Lomax Chris Mungall BBSRC FNS (SNF) EU-OPENSCREEN EMBL

Editor's Notes

  • #14 More relations (axioms), more complex hierarchies