Department of Pharmacy, School of Health Sciences, University of Patras, GR 26504 Patras, Greece.
Bioinformatics Unit, Department of Pathology, Faculty of Medicine and Health Sciences, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
Genes (Basel). 2020 May 18;11(5):561. doi: 10.3390/genes11050561.
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.
近年来，下一代测序技术的进步带来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，我们使用了来自 DiscovEHR 队列的 50726 名参与者的全外显子组测序数据，根据 PharmGKB 数据库中的出现情况，鉴定了具有潜在临床相关性的药物基因组学变异。我们进一步评估了鉴定出的罕见和常见药物基因组学变异在不同 GnomAD 亚群中的分布。总的来说，我们的研究结果表明，利用公开可用的序列数据（如 DiscovEHR 数据集和 GnomAD）提供了一个机会，可以更深入地了解对临床药物基因组学有直接影响的药物基因中的遗传变异。
