Recent advances in next-generation sequencing technology have led to the production of an unprecedented volume of genomic data, thus further advancing our understanding of the role of genetic variation in clinical pharmacogenomics. In the present study, we used whole exome sequencing data from 50,726 participants, as derived from the DiscovEHR cohort, to identify pharmacogenomic variants of potential clinical relevance, according to their occurrence within the PharmGKB database. We further assessed the distribution of the identified rare and common pharmacogenomics variants amongst different GnomAD subpopulations. Overall, our findings show that the use of publicly available sequence data, such as the DiscovEHR dataset and GnomAD, provides an opportunity for a deeper understanding of genetic variation in pharmacogenes with direct implications in clinical pharmacogenomics.

中文翻译：

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DiscovEHR 队列的外显子组分析揭示了临床药物基因组学的新候选药物基因组变体

新一代测序技术的最新进展产生了前所未有的基因组数据量，从而进一步加深了我们对遗传变异在临床药物基因组学中作用的理解。在本研究中，我们使用来自 DiscovEHR 队列的 50,726 名参与者的全外显子组测序数据，根据它们在 PharmGKB 数据库中的出现来识别具有潜在临床相关性的药物基因组变异。我们进一步评估了已识别的罕见和常见药物基因组学变异在不同 GnomAD 亚群中的分布。总体而言，我们的研究结果表明，使用公开可用的序列数据，例如 DiscovEHR 数据集和 GnomAD，