An RDF/OWL knowledge base for query answering and decision support in clinical pharmacogenetics

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Authors
Samwald, Matthias
Freimuth, Robert
Luciano, Joanne
Lin, Simon
Powers, Robert
Marshall, M.
Adlassnig, Klaus-Peter
Dumontier, Michel
Boyce, Richard
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2013-08-20
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Semantically Enabled Modeling of Major Depressive Disorder
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Abstract
Genetic testing for personalizing pharmacotherapy is bound to become an important part of clinical routine. To address associated issues with data management and quality, we are creating a semantic knowledge base for clinical pharmaco- genetics. The knowledge base is made up of three components: an expressive ontology formalized in the Web Ontology Lan- guage (OWL 2 DL), a Resource Description Framework (RDF) model for capturing detailed results of manual annota- tion of pharmacogenomic information in drug product labels, and an RDF conversion of relevant biomedical datasets. Our work goes beyond the state of the art in that it makes both automated reasoning as well as query answering as simple as possible, and the reasoning capabilities go beyond the capa- bilities of previously described ontologies.
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