Journal Article

Pharmacogenomics: candidate gene identification, functional validation and mechanisms

Liewei Wang and Richard M. Weinshilboum

in Human Molecular Genetics

Volume 17, issue R2, pages R174-R179
Published in print October 2008 | ISSN: 0964-6906
Published online October 2008 | e-ISSN: 1460-2083 | DOI:
Pharmacogenomics: candidate gene identification, functional validation and mechanisms

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Pharmacogenetics is the study of the role of inheritance in variation in drug response phenotypes. Those phenotypes can range from life-threatening adverse drugs reactions at one end of the spectrum to equally serious lack of therapeutic efficacy at the other. Over the past half century, pharmacogenetics has—like all of medical genetics—evolved from a discipline with a focus on monogenetic traits to become pharmacogenomics, with a genome-wide perspective. This article will briefly review recent examples of the application of genome-wide techniques to clinical pharmacogenomic studies and to pharmacogenomic model systems that vary from cell line-based model systems to yeast gene deletion libraries. Functional validation of candidate genes and the use of genome-wide techniques to gain mechanistic insights will be emphasized for the establishment of biological plausibility and as essential follow-up steps after the identification of candidate genes.

Journal Article.  3060 words.  Illustrated.

Subjects: Genetics and Genomics

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