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首页> 外文期刊>The Journal of molecular diagnostics: JMD >Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology.
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Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology.

机译：用于临床诊断原理的下一代测序以及在肥厚型心肌病的靶向重测序中的应用：2009年William Beaumont医院分子病理学研讨会论文。

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摘要

During the past five years, new high-throughput DNA sequencing technologies have emerged; these technologies are collectively referred to as next generation sequencing (NGS). By virtue of sequencing clonally amplified DNA templates or single DNA molecules in a massively parallel fashion in a flow cell, NGS provides both qualitative and quantitative sequence data. This combination of information has made NGS the technology of choice for complex genetic analyses that were previously either technically infeasible or cost prohibitive. As a result, NGS has had a fundamental and broad impact on many facets of biomedical research. In contrast, the dissemination of NGS into the clinical diagnostic realm is in its early stages. Though NGS is powerful and can be envisioned to have multiple applications in clinical diagnostics, the technology is currently complex. Successful adoption of NGS into the clinical laboratory will require expertise in both molecular biology techniques and bioinformatics. The current report presents principles that underlie NGS including sequencing library preparation, sequencing chemistries, and an introduction to NGS data analysis. These concepts are subsequently further illustrated by showing representative results from a case study using NGS for targeted resequencing of genes implicated in hypertrophic cardiomyopathy.
机译：在过去的五年中，出现了新的高通量DNA测序技术。这些技术统称为下一代测序（NGS）。通过在流动池中以大规模平行方式对克隆扩增的DNA模板或单个DNA分子进行测序，NGS可提供定性和定量序列数据。这些信息的结合使NGS成为了复杂的遗传分析的首选技术，而这些技术以前在技术上是不可行的，或者成本太高。结果，NGS对生物医学研究的许多方面产生了根本而广泛的影响。相反，将NGS传播到临床诊断领域尚处于早期阶段。尽管NGS功能强大，可以设想在临床诊断中有多种应用，但该技术目前很复杂。 NGS要成功地应用于临床实验室，将需要分子生物学技术和生物信息学方面的专业知识。本报告介绍了NGS的基本原理，包括测序文库制备，测序化学以及NGS数据分析简介。随后，通过显示使用NGS对与肥厚型心肌病有关的基因进行靶向重测序的案例研究的代表性结果，进一步阐明了这些概念。

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