PharmGKB: Understanding the Effects of Individual Genetic Variants

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.

Key Words:

• Polymorphism
• Variant
• Drug
• Tamoxifen
• Warfarin
• PharmGKB
• Disease
• Gene
• Pharmacogenetics
• Pharmacogenomics

ACKNOWLEDGMENTS

This work was supported by the NIH/NIGMS Pharmacogenetics Research Network (PGRN) and Database (U01GM61374). The authors thank the PGRN Publications Committee for their critical reading and helpful comments on this manuscript.

Declaration of Interest: The authors report no conflict of interest. The authors alone are responsible for the content and writing of the paper.