The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge

Tina Hernandez‐Boussard, Michelle Whirl‐Carrillo, Joan M. Hebert, Li Gong, Ryan Owen, Ming Gong, Winston Gor, Fulai Liu, Cavatina K. Truong, Ryan Whaley,

Nucleic Acids Research · 2007 · 109 citations · 2 references

DOIFull text

Open access

Concepts

TL;DR

PharmGKB is a knowledge base cataloging drug, disease/phenotype, and gene relationships in pharmacokinetics and pharmacodynamics, including literature annotations, primary datasets, pathways, and expert summaries. The website aims to disseminate pharmacogenetic knowledge and support whole‑genome studies by enabling variant browsing by chromosome and cytogenetic location. New infrastructure for whole‑genome data handling, quality control, cross‑source comparison (dbSNP, JSNP, HapMap), and high‑throughput SNP array data storage, display, and querying underpins the platform. The database contains annotations for over 500 drugs, 450 diseases, and 600 variant genes, enabling more structured phenotype cataloging and comparison, and is accessible at www.pharmgkb.org.

Abstract

PharmGKB is a knowledge base that captures the relationships between drugs, diseases/phenotypes and genes involved in pharmacokinetics (PK) and pharmacodynamics (PD). This information includes literature annotations, primary data sets, PK and PD pathways, and expert-generated summaries of PK/PD relationships between drugs, diseases/phenotypes and genes. PharmGKB's website is designed to effectively disseminate knowledge to meet the needs of our users. PharmGKB currently has literature annotations documenting the relationship of over 500 drugs, 450 diseases and 600 variant genes. In order to meet the needs of whole genome studies, PharmGKB has added new functionalities, including browsing the variant display by chromosome and cytogenetic locations, allowing the user to view variants not located within a gene. We have developed new infrastructure for handling whole genome data, including increased methods for quality control and tools for comparison across other data sources, such as dbSNP, JSNP and HapMap data. PharmGKB has also added functionality to accept, store, display and query high throughput SNP array data. These changes allow us to capture more structured information on phenotypes for better cataloging and comparison of data. PharmGKB is available at www.pharmgkb.org.

References

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