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.

七、项目概要药物基因组学研究遗传变异如何影响药物反应表型，是药物基因组学的支柱精准医疗——在正确的剂量和时间为正确的患者选择正确的药物。药物基因组学信息至关重要——既能促进分子机制的基本发现推动药物反应的变化并支持临床研究的实施，以了解如何药物基因组学知识库 (PharmGKB) 是在临床上提供最佳药物基因组学的基础。 PharmGKB 管理者注重高质量的药物基因组学信息的首要公共存储库。在原始文献中提取和表达知识，并捕获有关个人的信息影响药物反应的遗传变异、这些变异的潜在临床影响、药物反应的药代动力学和药效学途径、药物基因组学要求 PharmGKB 网站托管基因组驱动处方的监管文件（标签）和指南。每月超过 60,000 次独特的 IP 访问，并提供对药物基因组学知识的灵活访问最重要的是，PharmGKB 是研究社区的中心。药物基因组学和精准医学——将其内容与关键资源和组织相整合包括 ClinVar、ClinGen、FDA、临床药物遗传学实施联盟 (CPIC) 和在本提案中，我们请求支持 PharmGKB 作为基因组社区资源，并概述了计划 (1) 从已发表的文献和相关数据库中整理药物基因组学知识，将手动管理与自动方法相结合以分类重要知识，(2) 构建工具通过提供我们的知识内容，促进药物基因组学知识的发现和使用以对我们的用户有用的新颖方式为基础，以及（3）与致力于基因组学实施的努力合作医学，通过提供最好的科学知识来支持这些努力。