Quantitative comparison of mapping methods between Human and Mammalian Phenotype Ontology

Anika Oellrich, Georgios V. Gkoutos, Robert Hoehndorf, Dietrich Rebholz-Schuhmann

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Abstract

Researchers use animal studies to better understand human diseases. In recent years, large-scale phenotype studies such as Phenoscape and EuroPhenome have been initiated to identify genetic causes of a species phenome. Species-specific phenotype ontologies are required to capture and report about all findings and to automatically infer results relevant to human diseases. The integration of the different phenotype ontologies into a coherent framework is necessary to achieve interoperability for cross-species research. Here, we investigate the quality and completeness of two different methods to align the Human Phenotype Ontology and the Mammalian Phenotype Ontology. The first method combines lexical matching with inference over the ontologies taxonomic structures, while the second method uses a mapping algorithm based on the formal definitions from the ontologies. Neither method could map all concepts. Despite the formal definitions method provides mappings for more concepts than does the lexical matching method, it does not outperform the lexical matching in a biological use case. Our results suggest that combining both approaches will yield to better mappings in terms of completeness, specificity and application purposes.
Original languageEnglish
Article numberS1
JournalJournal of Biomedical Semantics
Volume3
Issue numberSuppl 2
DOIs
Publication statusPublished - 21 Sept 2012
EventProceedings of Ontologies in Biomedicine and Life Sciences (OBML 2011) - Berlin, Germany
Duration: 06 Oct 201107 Oct 2011

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