Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.

Journal: BMC medical informatics and decision making
Published Date: Feb 22, 2015

Abstract

BACKGROUND: Every year, hundreds of thousands of patients experience treatment failure or adverse drug reactions (ADRs), many of which could be prevented by pharmacogenomic testing. However, the primary knowledge needed for clinical pharmacogenomics is currently dispersed over disparate data structures and captured in unstructured or semi-structured formalizations. This is a source of potential ambiguity and complexity, making it difficult to create reliable information technology systems for enabling clinical pharmacogenomics.

Authors

  • Matthias Samwald
    Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Spitalgasse 23, 1090, Vienna, Austria. matthias.samwald@meduniwien.ac.at.
  • Jose Antonio Miñarro Giménez
    Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Spitalgasse 23, 1090, Vienna, Austria.
  • Richard D Boyce
    Department of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, USA.
  • Robert R Freimuth
    Department of Health Sciences Research; Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
  • Klaus-Peter Adlassnig
    Section for Medical Expert and Knowledge-Based Systems, CeMSIIS, Medical University of Vienna, Vienna, Austria.
  • Michel Dumontier
    Stanford University, Stanford, CA USA.

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