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下一代测序应用程序的分析验证的当前状态,用于制药遗传学分析

Tatjana Huebner¹, Michael Steffens², Catharina Scholl²

¹Research Division, Federal Institute for Drugs and Medical Devices (BfArM), Kurt-Georg-Kiesinger-Allee 3, Bonn, 53175, Germany. Tatjana.Huebner@bfarm-research.de.

Molecular biology reports

|October 3, 2023

概括

对下一代测序 (NGS) 的分析验证对于药物遗传分析至关重要,但缺乏标准化的报告. 对于临床实施这些重要的药物代谢酶试验,需要更全面的性能评估.

科学领域:

基因组学和生物信息学
临床诊断临床诊断临床诊断
药物遗传学药物遗传学

背景情况:

分析有效性对于临床使用下一代测序 (NGS) 在体外诊断试验中至关重要.
使用NGS进行药物治疗指导的药物遗传学分析尚未在美国和欧盟成为标准,尽管有报告的价值.
NGS测试在研究中被广泛使用,并且与基于数组的方法具有可比性.

研究的目的:

系统地评估有关NGS应用程序的分析验证的文献,用于制药遗传学分析.
评估针对药物代谢酶的NGS试验分析验证的现状.
发现药物遗传学中全外体和全基因组测序的公布绩效评估中的差距.

主要方法:

系统的文献审查和已发表研究的评估.
对特定药物代谢酶 (CYP2C9,CYP2C19,CYP2D6,VKORC1,UGT1A1) 的药物遗传学概况进行NGS应用程序的选和评估.

主要成果:

关于NGS应用程序对药物代谢酶的药物遗传学概况的分析验证的公布信息很少.
在文献中尚未提供用于药物遗传学分析的全外体和全基因组测序的全面性能评估.
目前还缺乏基于NGS的药物遗传学试验分析验证的标准化报告框架.

结论:

报告基于NGS的测试分析验证的标准尚未建立.
关键的性能标准,如准确性,精度,检测极限和特异性,通常在已发表的文献中没有得到解决.
建立明确的验证标准是必要的,以促进基于NGS的药物遗传学试验的临床实施.

关键词:

分析验证分析验证国家储备系统 (NGS)下一代测序测序是什么在PGx和PGx之间.业绩表现业绩表现业绩表现药物基因组学药物基因组学进行个人资料制作.第三代测序是第三代测序.在WES WES中,您可以使用在WGS中,使用的是WGS.整个外基因组的测序.整个基因组的测序.

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相关概念视频

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....