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Related Experiment Video

Updated: May 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Pharmacogenomics knowledge for personalized medicine.

M Whirl-Carrillo¹, E M McDonagh, J M Hebert

¹Department of Genetics, Stanford University, Palo Alto, California, USA.

Clinical Pharmacology and Therapeutics

|September 21, 2012

Summary

This summary is machine-generated.

The Pharmacogenomics Knowledgebase (PharmGKB) curates genetic variation data impacting drug responses. This resource aids personalized medicine by providing evidence-based gene-drug associations and dosing guidelines.

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Last Updated: May 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Pharmacogenomics
Genetics
Drug Discovery

Background:

Human genetic variation significantly influences individual drug responses.
Personalized medicine requires robust data linking genetic profiles to drug efficacy and safety.
Existing resources need comprehensive, curated information for clinical application.

Purpose of the Study:

To describe the Pharmacogenomics Knowledgebase (PharmGKB) as a comprehensive resource.
To highlight PharmGKB's role in disseminating clinically relevant pharmacogenomic information.
To emphasize the utility of PharmGKB in supporting personalized medicine initiatives.

Main Methods:

PharmGKB collects and curates data on human genetic variation and drug responses.
Information includes gene-drug associations, genotype-phenotype relationships, and dosing guidelines.
Curators assign evidence levels to variant-drug associations based on literature review.

Main Results:

PharmGKB provides a centralized repository of pharmacogenomic data.
It offers clinically actionable information, including annotated drug labels.
Evidence levels are assigned using defined criteria, ensuring data quality.

Conclusions:

PharmGKB is a valuable, high-quality resource for pharmacogenomic information.
The knowledgebase supports the implementation of personalized medicine projects.
It facilitates the translation of genetic insights into clinical practice.