PharmGKB

项目摘要/摘要 药物基因组学是研究遗传变异如何影响药物反应表型的，是精确度的支柱。 药物-在正确的剂量和时间为正确的患者选择正确的药物。一种公共资源 药物基因组学知识是至关重要的--这两种知识都能促进对驱动的分子机制的基本发现 药物反应的可变性，并支持临床研究的实施，以了解如何最好地提供 药物基因组学在临床上的应用药物基因组学知识库(Pharmacgenology Knowledgebase，PharmGKB)是 药物基因组学知识。PharmGKB策展人专注于高质量的知识提取和表示 主要文献，并捕捉有关影响药物反应的个体遗传变异的信息，潜在的 这些变异的临床影响，药物反应的药代动力学和药效学途径， 法规文件(标签)中的药物基因组要求，以及基因组驱动处方的指南。这个 PharmGKB网站每年平均有520万网页浏览量(无机器人)，并提供灵活的访问权限 关于多种设备的药物基因组学知识。最重要的是，PharmGKB是研究的中心 药物基因组学和精准医学社区-将其内容与关键资源和 包括ClinVar、临床基因组资源(Clingen)、FDA、临床药物遗传学等组织 实施联盟(CPIC)和其他组织。在本提案中，我们请求支持PharmGKB作为生物医学 知识库，并概述一项计划，以(1)注释、汇总、整合和传播药物基因组学知识 利用社区管理和半自动方法从来源帮助获取知识，(2)构建 管理和用户特定的界面，催化发现和使用药物基因组学知识，提供 以对我们的用户有用的新颖方式提供我们知识库的内容，(3)与正在进行的 致力于实施基因组医学的国家和国际努力，通过提供最好的科学 支持这些重要方案的知识和(4)制定新的长期和概念性框架 将现有的PGx知识库整合到基因组医学中。

Project Summary/Abstract Pharmacogenomics is the study of 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 knowledge 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 knowledge. 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 annually on average 5.2 million webpage views (without bots) 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, the Clinical Genome Resource (ClinGen), the FDA, the Clinical Pharmacogenetics Implementation Consortium (CPIC) and others. In this proposal, we request support for PharmGKB as a Biomedical Knowledgebase, and outline a plan to (1) annotate, aggregate, integrate, and disseminate pharmacogenomic knowledge from sources utilizing community curation and semi-automated methods to assist knowledge acquisition, (2) build curation and user-specific interfaces that catalyze the discovery and use of pharmacogenomic knowledge, providing the content of our knowledgebase in novel ways that are useful to our users, (3) collaborate and integrate with ongoing national and international efforts dedicated to the implementation of genomic medicine by providing the best scientific knowledge to support these important programs and (4) develop a new long-term and conceptual framework for broadly integrating available PGx knowledgebases into genomic medicine.