Briefings in Bioinformatics Advance Access originally published online on February 24, 2009
Briefings in Bioinformatics 2009 10(2):153-163; doi:10.1093/bib/bbn056
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This article appears in the following Briefings in Bioinformatics issue: Special Issue: Semantic Web for Health Care and Life Sciences: A Review of the State of the Art [View the issue table of contents]
Towards pharmacogenomics knowledge discovery with the semantic web
Corresponding author. Michel Dumontier, Department of Biology, Carleton University, 1125 Colonel By Drive, Ottawa, Ontario, Canada K1S 5B6. Tel: 613-520-2600 x4194; Fax: 613-520-3539; E-mail: michel_dumontier{at}carleton.ca
Pharmacogenomics aims to understand pharmacological response with respect to genetic variation. Essential to the delivery of better health care is the use of pharmacogenomics knowledge to answer questions about therapeutic, pharmacological or genetic aspects. Several XML markup languages have been developed to capture pharmacogenomic and related information so as to facilitate data sharing. However, recent advances in semantic web technologies have presented exciting new opportunities for pharmacogenomics knowledge discovery by representing the information with machine understandable semantics. Progress in this area is illustrated with reference to the personalized medicine project that aims to facilitate pharmacogenomics knowledge discovery through intuitive knowledge capture and sophisticated question answering using automated reasoning over expressive ontologies.
Keywords: pharmacogenomics, semantic web, XML, OWL, ontology design, data integration
Submitted: August 1, 2008. Received (in revised form): November 10, 2008.