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Oxford University Press (OUP), Briefings in Bioinformatics, 2(10), p. 153-163

DOI: 10.1093/bib/bbn056

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Towards pharmacogenomics knowledge discovery with the semantic web

Journal article published in 2009 by Michel Dumontier ORCID, Natalia Villanueva-Rosales
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.