Pharmacogenomics and Bioinformatics: Pharmgkb

Abstract

The NIH initiated the PharmGKB in April 2000. The primary mission was to create a repository of primary data, tools to track associations between genes and drugs, and to catalog the location and frequency of genetic variations known to impact drug response. Over the past 10 years, new technologies have shifted research from candidate gene pharmacogenetics to phenotype-based pharmacogenomics with a consequent explosion of data. PharmGKB has refocused on curating knowledge rather than housing primary genotype and phenotype data, and now, captures more complex relationships between genes, variants, drugs, diseases and pathways. Going forward, the challenges are to provide the tools and knowledge to plan and interpret genome-wide pharmacogenomics studies, predict gene–drug relationships based on shared mechanisms and support data-sharing consortia investigating clinical applications of pharmacogenomics.

KEYWORDS::

• biocuration
• bioinformatics
• consortia
• gene variant
• pathway
• pharmacogenomics
• PharmGKB

Acknowledgements

The authors would like to thank PharmGKB team members past and present without whom none of this would be possible: Dorit Berlin, John Conroy, Katrina Easton, Ray Fergerson, Li Gong, Mei Gong, Winston Gor, Joan Hebert, Tina Hernandez-Boussard, Micheal Hewett, Amy Hodge, Laura Hodges, Daniel Holbert, Mark Kiuchi, Steve Lin, Feng Liu, Xing Jian Lou, Charity Lu, Andrew MacBride, Diane Oliver, Connie Oshiro, Ryan Owen, Daniel Rubin, Katrin Sangkuhl, Farhad Shafa, Ravi Shankar, Rebecca Tang, TC Truong, Ryan Whaley, Michelle Whirl Carrillo, Mark Woon and Tina Zhou.

Financial & competing interests disclosure

This work is supported by the NIH/NIGMS (U01GM61374). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Additional information

Funding

This work is supported by the NIH/NIGMS (U01GM61374). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.