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将下一代测序技术整合到临床药物基因组学工作流程中。

Integrating Next-Generation Sequencing in the Clinical Pharmacogenomics Workflow.

作者信息

Giannopoulou Efstathia, Katsila Theodora, Mitropoulou Christina, Tsermpini Evangelia-Eirini, Patrinos George P

机构信息

Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.

The Golden Helix Foundation, London, United Kingdom.

出版信息

Front Pharmacol. 2019 Apr 5;10:384. doi: 10.3389/fphar.2019.00384. eCollection 2019.

DOI:10.3389/fphar.2019.00384
PMID:31024324
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6460422/
Abstract

Pharmacogenomics has been recognized as a fundamental tool in the era of personalized medicine with up to 266 drug labels, approved by major regulatory bodies, currently containing pharmacogenomics information. Next-generation sequencing analysis assumes a critical role in personalized medicine, providing a comprehensive profile of an individual's variome, particularly that of clinical relevance, comprising of pathogenic variants and pharmacogenomic biomarkers. Here, we propose a strategy to integrate next-generation sequencing into the current clinical pharmacogenomics workflow from deep resequencing to pharmacogenomics consultation, according to the existing guidelines and recommendations.

摘要

药物基因组学已被公认为个性化医疗时代的一项基本工具,目前有多达266种药物标签获主要监管机构批准,其中包含药物基因组学信息。下一代测序分析在个性化医疗中发挥着关键作用,它能提供个体变异组的全面概况,尤其是具有临床相关性的变异组,包括致病变异和药物基因组学生物标志物。在此,我们根据现有指南和建议,提出一种将下一代测序整合到当前临床药物基因组学工作流程中的策略,该流程涵盖从深度重测序到药物基因组学咨询的各个环节。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c019/6460422/50d13df5370d/fphar-10-00384-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c019/6460422/50d13df5370d/fphar-10-00384-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c019/6460422/50d13df5370d/fphar-10-00384-g001.jpg

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