NO016.20190113.ClinPharmacolTher.The Evolution of PharmVar

原文链接：The Evolution of PharmVar

原文摘录：

1. PharmVar: Pharmacogene Variation Consortium（药物基因变异联盟）
2. To improve the utility of this resource, PharmVar has established a database and gene expert panels and expanded beyond CYPs to include other clinically important pharmacogenes.（开始收录除CYPs以外的其他重要的临床药物基因）
3. The Pharmacogene Variation Consortium (PharmVar) was launched in September 2017 with the mission to continue providing haplotype information and transforming the original tables into a modern and interactive resource.（该联盟成立于2017年9月，目的是为了继续提供单倍型信息，同时将之前静态的数据表升级为现代的、交互性的资源）
4. Furthermore, the database is versioned and dated. PharmVar members have the option to receive email notifications when a new version is released, and automated change log reports will be available in the future.（版本控制和时间控制）
5. PharmVar works with the NCBI to develop locus reference genomic (LRG) sequences (https://www.lrg-sequence.org/) for pharmacogenes. LRGs are stable references that are developed for reporting sequence variants with clinical implications. The benefit of using LRGs is that these will not change over time (as opposed to RefSeqs), thereby providing the field with “gold standard” references for test reporting.
6. NUDT15 genetic testing is increasingly being performed in concert with TPMT and, thus, nomenclature is a prerequisite for standardized reporting.（对NUDT15基因的检测越来越多，因此在进行标准的报告之前，对其变异进行命名是非常必要的，是前提）

总结：

1. 该文内容很少，说白了就是告知用户他们在原来CYP命名页面的基础上做了一个动态的数据库，根据文章的描述，有以下几个特点：
   a. 动态更新的数据库；
   b. 数据库版本控制；
   c. 提供证据等级；
   d. 引入了PharmVar ID，并推荐使用；
   f. 基因开始扩展到CYPs之外的基因（但是目前也才一两个）；
   g. 会持续更新（keep evolving）；
2. 根据该文也可以了解到，变异的命名依然是一个尚未解决的问题！