PharmGKB

PharmGKB curates and disseminates genotype and phenotype annotations linking human genetic variants to drug responses to support pharmacogenomics research and clinical decision-making.

Key Features:

• Curated genotype and phenotype data: Aggregates primary genotype and phenotype information describing genetic variation and associated drug responses.
• Gene–drug and variant–drug annotations: Records and annotates relationships between genes, variants, drugs, and diseases.
• Dosing guidelines and annotated drug labels: Provides dosing recommendations and annotated drug label information tied to genetic variants.
• Pharmacogenomics gene and pathway summaries: Summarizes essential pharmacogenomics (PGx) genes and drug pathways relevant to drug response.
• Levels of evidence for associations: Applies defined evidence levels to variant–drug associations to indicate the strength of genotype–phenotype links.

Scientific Applications:

• Personalized medicine: Supports tailoring drug therapies based on individual genetic profiles.
• Clinical decision-making: Informs drug selection and dosing decisions using curated variant–drug associations, dosing guidelines, and annotated labels.
• Pharmacogenomics research: Enables research into genetic influences on drug response by providing curated genotype–phenotype and gene–drug data.

Methodology:

PharmGKB annotates relationships through an extensive literature review and assigns levels of evidence to variant–drug associations using well-defined curation criteria.