Pharmacogenomics and bioinformatics: PharmGKB
- PMID:20350130
- PMCID: PMC3098752
- DOI: 10.2217/pgs.10.15
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.
Figures
Similar articles
- PharmGKB: the Pharmacogenomics Knowledge Base.Thorn CF, Klein TE, Altman RB.Thorn CF, et al.Methods Mol Biol. 2013;1015:311-20. doi: 10.1007/978-1-62703-435-7_20.Methods Mol Biol. 2013.PMID:23824865Free PMC article.
- The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge.Hernandez-Boussard T, Whirl-Carrillo M, Hebert JM, Gong L, Owen R, Gong M, Gor W, Liu F, Truong C, Whaley R, Woon M, Zhou T, Altman RB, Klein TE.Hernandez-Boussard T, et al.Nucleic Acids Res. 2008 Jan;36(Database issue):D913-8. doi: 10.1093/nar/gkm1009. Epub 2007 Nov 21.Nucleic Acids Res. 2008.PMID:18032438Free PMC article.
- PharmGKB: understanding the effects of individual genetic variants.Sangkuhl K, Berlin DS, Altman RB, Klein TE.Sangkuhl K, et al.Drug Metab Rev. 2008;40(4):539-51. doi: 10.1080/03602530802413338.Drug Metab Rev. 2008.PMID:18949600Free PMC article.
- Pharmacogenomics knowledge for personalized medicine.Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE.Whirl-Carrillo M, et al.Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96.Clin Pharmacol Ther. 2012.PMID:22992668Free PMC article.Review.
- From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource.McDonagh EM, Whirl-Carrillo M, Garten Y, Altman RB, Klein TE.McDonagh EM, et al.Biomark Med. 2011 Dec;5(6):795-806. doi: 10.2217/bmm.11.94.Biomark Med. 2011.PMID:22103613Free PMC article.Review.
Cited by
- PharmGKB: the Pharmacogenomics Knowledge Base.Thorn CF, Klein TE, Altman RB.Thorn CF, et al.Methods Mol Biol. 2013;1015:311-20. doi: 10.1007/978-1-62703-435-7_20.Methods Mol Biol. 2013.PMID:23824865Free PMC article.
- Identifying aberrant pathways through integrated analysis of knowledge in pharmacogenomics.Hoehndorf R, Dumontier M, Gkoutos GV.Hoehndorf R, et al.Bioinformatics. 2012 Aug 15;28(16):2169-75. doi: 10.1093/bioinformatics/bts350. Epub 2012 Jun 17.Bioinformatics. 2012.PMID:22711793Free PMC article.
- Advancing computer-aided drug discovery (CADD) by big data and data-driven machine learning modeling.Zhao L, Ciallella HL, Aleksunes LM, Zhu H.Zhao L, et al.Drug Discov Today. 2020 Sep;25(9):1624-1638. doi: 10.1016/j.drudis.2020.07.005. Epub 2020 Jul 11.Drug Discov Today. 2020.PMID:32663517Free PMC article.Review.
- The Rat Genome Database pathway portal.Petri V, Shimoyama M, Hayman GT, Smith JR, Tutaj M, de Pons J, Dwinell MR, Munzenmaier DH, Twigger SN, Jacob HJ; RGD Team.Petri V, et al.Database (Oxford). 2011 Apr 8;2011:bar010. doi: 10.1093/database/bar010. Print 2011.Database (Oxford). 2011.PMID:21478484Free PMC article.
- Mouse model phenotypes provide information about human drug targets.Hoehndorf R, Hiebert T, Hardy NW, Schofield PN, Gkoutos GV, Dumontier M.Hoehndorf R, et al.Bioinformatics. 2014 Mar 1;30(5):719-25. doi: 10.1093/bioinformatics/btt613. Epub 2013 Oct 24.Bioinformatics. 2014.PMID:24158600Free PMC article.
References
Bibliography
- Klein TE, Chang JT, Cho MK, et al. Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base. Pharmacogenomics J. 2001;1(3):167–170. - PubMed
- Lin Z, Owen AB, Altman RB. Genetics. Genomic research and human subject privacy. Science. 2004;305(5681):183. - PubMed
- Luciano JS. PAX of mind for pathway researchers. Drug Discov Today. 2005;10(13):937–942. - PubMed
Websites
- DNA Twist.http://DNATwist.org.
- PharmGKB.www.pharmgkb.org.
Publication types
MeSH terms
Substances
Related information
Grants and funding
LinkOut - more resources
Full Text Sources
Miscellaneous