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Pharmacogenetics

Data supporting pharmacogenetics annotation for a drug

Overview

Pharmacogenetics is the study of how your genetics change your response to a specific drug. By integrating pharmacogenetics data in the Platform, we aim to inform our users on these drug-variant-gene associations, including annotation on variant consequence prediction, drug response category and information on the specific drug.
This allows additional granularity to therapeutic hypothesis formulation, taking into account how specific genetic backgrounds can influence treatment outcomes.

Data sources

PharmGKB is an NIH-funded comprehensive resource that provides information about how human genetic variation affects response to medications. PharmGKB collects, curates and disseminates knowledge about clinically actionable gene-drug associations and genotype-phenotype relationships, focusing on the impact of genetic variation on drug response for clinicians and researchers.
We have modelled and harmonised the data from the Clinical Annotation section of PharmGKB, which includes variant-gene relationship and their role in drug response. The Platform, however, only showcases records of high confidence (1A, 1B, 2A and 2B in PharmGKB’s categorisation system).

Publications

When using this data please remember to acknowledge the sources:
You can find all the relevant PharmGKB Publications here