Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation.

Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation.
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DOI:
10.1002/cpt.2321
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发表时间:
2021-09
影响因子:
6.7
通讯作者:
Klein TE
Klein TE
中科院分区:
医学2区
文献类型:
--
作者:
Gaedigk A;Casey ST;Whirl-Carrillo M;Miller NA;Klein TE

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药物基因变异联盟(PharmVar)成立于2017年,旨在为临床和研究界提供导致药物代谢和反应变异的基因库和标准化命名法。在过去的四年中,PharmVar为研究和临床药物遗传学/基因组学社区提供了具有良好药物-基因关系的旗舰药物基因的基本信息,并发布了CYP2C9, CYP2C19和CYP2D6等临床指南。从这个角度来看,我们强调了最近的里程碑和标准化工作。
The Pharmacogene Variation Consortium (PharmVar) was founded in 2017 to provide the clinical and research communities a repository and standardized nomenclature of genes contributing to variability in drug metabolism and response. Over the past four years, PharmVar has provided the research and clinical pharmacogenetics/genomics communities with essential information for flagship pharmacogenes with well-established drug-gene relationships and published clinical guidelines such as CYP2C9, CYP2C19 and CYP2D6. In this perspective we highlight recent milestones and standardization efforts.
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