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药物基因组学知识库:了解个体基因变异的影响。

PharmGKB: understanding the effects of individual genetic variants.

作者信息

Sangkuhl Katrin, Berlin Dorit S, Altman Russ B, Klein Teri E

机构信息

Department of Genetics, Stanford University, Stanford, California 94305-5120, USA.

出版信息

Drug Metab Rev. 2008;40(4):539-51. doi: 10.1080/03602530802413338.

Abstract

The Pharmacogenetics and Pharmacogenomics Knowledge Base (PharmGKB: http://www.pharmgkb.org) is devoted to disseminating primary data and knowledge in pharmacogenetics and pharmacogenomics. We are annotating the genes that are most important for drug response and present this information in the form of Very Important Pharmacogene (VIP) summaries, pathway diagrams, and curated literature. The PharmGKB currently contains information on over 500 drugs, 500 diseases, and 700 genes with genotyped variants. New features focus on capturing the phenotypic consequences of individual genetic variants. These features link variant genotypes to phenotypes, increase the breadth of pharmacogenomics literature curated, and visualize single-nucleotide polymorphisms on a gene's three-dimensional protein structure.

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