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PharmGKB

PharmGKB (Pharmacogenomics Knowledgebase) is a comprehensive resource that aggregates, curates, and disseminates knowledge about the impact of human genetic variation on drug response. It encompasses information on genes, genetic variants, drugs, and diseases, providing evidence-based summaries and annotations related to pharmacogenomics. PharmGKB's primary goal is to aid researchers in understanding how genetic variations influence drug metabolism, efficacy, and toxicity, ultimately contributing to the development of personalized medicine strategies.

PharmGKB utilizes a variety of data sources, including scientific publications, clinical guidelines, and drug labels. Expert curators review and annotate this information to create structured knowledge representations, including variant annotations, clinical annotations, drug pathways, and phenotype relationships. The database is freely available to the public and is widely used by researchers, clinicians, and drug developers. Key features include:

  • Variant Annotations: These describe the effect of specific genetic variants on drug response, often including details about altered enzyme activity or receptor binding.
  • Clinical Annotations: Summarize the clinical implications of specific gene-drug interactions, providing guidance on dosing adjustments or alternative therapies based on a patient's genotype.
  • Drug Pathways: Illustrate the metabolic pathways of drugs, highlighting the genes and enzymes involved in their absorption, distribution, metabolism, and excretion (ADME).
  • Literature Summaries: Provide concise summaries of relevant research articles related to pharmacogenomics.

PharmGKB plays a crucial role in translating pharmacogenomic research findings into clinical practice. By providing a centralized and curated knowledge resource, it facilitates the integration of genetic information into drug prescribing decisions, potentially leading to improved patient outcomes and reduced adverse drug events. The database is continuously updated and expanded to reflect the latest advances in the field of pharmacogenomics.