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Interoperability between biomedical ontologies through relation expansion, upper-level ontologies and automatic reasoning.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Hoehndorf, Robert 
Dumontier, Michel 
Oellrich, Anika 
Rebholz-Schuhmann, Dietrich 
Schofield, Paul N 

Abstract

Researchers design ontologies as a means to accurately annotate and integrate experimental data across heterogeneous and disparate data- and knowledge bases. Formal ontologies make the semantics of terms and relations explicit such that automated reasoning can be used to verify the consistency of knowledge. However, many biomedical ontologies do not sufficiently formalize the semantics of their relations and are therefore limited with respect to automated reasoning for large scale data integration and knowledge discovery. We describe a method to improve automated reasoning over biomedical ontologies and identify several thousand contradictory class definitions. Our approach aligns terms in biomedical ontologies with foundational classes in a top-level ontology and formalizes composite relations as class expressions. We describe the semi-automated repair of contradictions and demonstrate expressive queries over interoperable ontologies. Our work forms an important cornerstone for data integration, automatic inference and knowledge discovery based on formal representations of knowledge. Our results and analysis software are available at http://bioonto.de/pmwiki.php/Main/ReasonableOntologies.

Description

Keywords

Automation, Biomedical Research, Information Storage and Retrieval, Knowledge, Natural Language Processing

Journal Title

PLoS One

Conference Name

Journal ISSN

1932-6203
1932-6203

Volume Title

6

Publisher

Public Library of Science (PLoS)
Sponsorship
National Human Genome Research Institute (R01HG004838)
European Commission (248502)