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PharmGKB: pharmacogenomics discovery and implementation

PharmGKB：药物基因组学的发现和实施

基本信息

批准号：
10330009
负责人：
TERI Ellen KLEIN
金额：
$ 125万
依托单位：
STANFORD UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-04-03 至 2023-01-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10330009
关键词：
Adverse effects Animal Model Basic Science Biomedical Research Catalogs ClinVar Clinic Clinical Clinical Medicine Clinical Research Clinical Sciences Communities Computer software Consensus DNA Data Databases Devices Discipline Disease Dose Drug Interactions Drug Prescriptions Engineering Environment FAIR principles Genes Genetic Genetic Variation Genetic study Genome Genomic medicine Genomics Grouping Guidelines Hair Color Haplotypes Height Human Human Genetics Individual Inherited Intervention Knowledge Label Literature Manuals Measures Medicine Methods Mission Molecular Molecular Genetics Opioid Pathway interactions Patient Rights Patients Pharmaceutical Preparations Pharmacogenetics Pharmacogenomics Pharmacology Phenotype Physiological Population Procedures Process Publishing Research Resource Informatics Resources Rest Risk Role Source Study models System Tablets Telephone Time Toxic effect Triage United States National Institutes of Health Variant Vision Visit Visualization Work base clinical implementation clinically significant computer infrastructure data interoperability data sharing drug efficacy flexibility genetic variant improved information organization interest knowledge base knowledgebase novel outreach program pharmacokinetics and pharmacodynamics precision medicine public repository response side effect success tool trait web site

项目摘要

7. Project Summary Pharmacogenomics studies how genetic variation influences drug response phenotypes and is a pillar of precision medicine—choosing the right drug for the right patient at the right dose and time. A public resource of pharmacogenomics information is critical—both to catalyze basic discovery of the molecular mechanisms that drive variability in drug response and to support the implementation of clinical research to understand how to best deliver pharmacogenomics in the clinic. The Pharmacogenomics Knowledgebase (PharmGKB) is the premier public repository of pharmacogenomics information. PharmGKB curators focus on high quality extraction and representation of knowledge in the primary literature, and capture information about individual genetic variations that impact drug response, the potential clinical impact of these variations, the pharmacokinetic and pharmacodynamic pathways of drug response, the pharmacogenomic requirements in regulatory documents (labels), and guidelines for genome-driven prescribing. The PharmGKB website hosts more than 60,000 unique IP visits per month and provides flexible access to pharmacogenomics knowledge on multiple devices. Most importantly, PharmGKB serves as a hub for the research community in pharmacogenomics and precision medicine—integrating its contents with critical resources and organizations including ClinVar, ClinGen, the FDA, the Clinical Pharmacogenetics Implementation Consortium (CPIC) and others. In this proposal, we request support for PharmGKB as a Genomic Community Resource, and outline a plan to (1) curate pharmacogenomic knowledge from the published literature and from relevant databases, combining manual curation with automated methods for triaging important knowledge, (2) build tools that catalyze the discovery and use of pharmacogenomic knowledge, by providing the content of our knowledge base in novel ways useful to our users, and (3) collaborate with efforts devoted to implementation of genomic medicine, by providing the best scientific knowledge to support these efforts.

7. 项目总结