title: Semantically enabling pharmacogenomic data for the realization of personalized medicine.
abstract: Understanding how each individual's genetics and physiology influences pharmaceutical response is crucial to the realization of personalized medicine and the discovery and validation of pharmacogenomic biomarkers is key to its success. However, integration of genotype and phenotype knowledge in medical information systems remains a critical challenge. The inability to easily and accurately integrate the results of biomolecular studies with patients' medical records and clinical reports prevents us from realizing the full potential of pharmacogenomic knowledge for both drug development and clinical practice. Herein, we describe approaches using Semantic Web technologies, in which pharmacogenomic knowledge relevant to drug development and medical decision support is represented in such a way that it can be efficiently accessed both by software and human experts. We suggest that this approach increases the utility of data, and that such computational technologies will become an essential part of personalized medicine, alongside diagnostics and pharmaceutical products.
authors.affiliation: Department of Medical Statistics & Bioinformatics, Leiden University Medical Center/Informatics Institute, University of Amsterdam, Einthovenweg 20, 2333 ZC Leiden, The Netherlands.
authors.forename: Matthias
authors.initials: M
authors.lastname: Samwald
authors.forename: Adrien
authors.initials: A
authors.lastname: Coulet
authors.forename: Iker
authors.initials: I
authors.lastname: Huerga
authors.forename: Robert L
authors.initials: RL
authors.lastname: Powers
authors.forename: Joanne S
authors.initials: JS
authors.lastname: Luciano
authors.forename: Robert R
authors.initials: RR
authors.lastname: Freimuth
authors.forename: Frederick
authors.initials: F
authors.lastname: Whipple
authors.forename: Elgar
authors.initials: E
authors.lastname: Pichler
authors.forename: Eric
authors.initials: E
authors.lastname: Prud'hommeaux
authors.forename: Michel
authors.initials: M
authors.lastname: Dumontier
authors.forename: M Scott
authors.initials: MS
authors.lastname: Marshall
mesh_terms: D030541:Databases, Genetic / Q000639:trends*; D006801:Humans; D007256:Information Systems; D020407:Internet / Q000639:trends; D010597:Pharmacogenetics / Q000639:trends*; D057285:Precision Medicine / Q000379:methods* / Q000639:trends*; D012660:Semantics