PharmGKB: pharmacogenomics discovery and implementation

7.项目总结 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。公共资源 药物基因组学信息是至关重要的--这两者都是催化分子机制的基本发现 驱动药物反应的可变性，并支持临床研究的实施，以了解如何 以便在临床上最好地提供药物基因组学。药物基因组学知识库(PharmGKB)是 药物基因组学信息的主要公共存储库。PharmGKB策展人关注高质量 提取和表示主要文献中的知识，并获取有关个人的信息 影响药物反应的基因变异，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 管理文件(标签)和基因组驱动处方的指南。PharmGKB网站托管 每月超过60,000次独立IP访问，并提供灵活的药物基因组学知识 多台设备。最重要的是，PharmGKB是 药物基因组学和精准医学--将其内容与关键资源和组织整合 包括ClinVar、Clingen、FDA、临床药物遗传学实施联盟(CPIC)和 其他。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收集药物基因组学知识， 将人工管理与自动分类重要知识的方法相结合，(2)构建可 通过提供我们的知识内容，催化发现和使用药物基因组学知识 以对我们的用户有用的新方式建立基础，以及(3)与致力于实施基因组学的努力合作 医学，通过提供最好的科学知识来支持这些努力。

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.