Towards pharmacogenomics knowledge discovery with the semantic web

Michel Dumontier*, Natalia Villanueva-Rosales

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)153-163
JournalBriefings in Bioinformatics
Volume10
Issue number2
DOIs
Publication statusPublished - Mar 2009
Externally publishedYes

Keywords

  • pharmacogenomics
  • semantic web
  • XML
  • OWL
  • ontology design
  • data integration

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