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[下一代测序——在临床实践中的应用]

[Next generation sequencing -  application in clinical practice].

作者信息

Koubková L, Vojtěšek B, Vyzula R

出版信息

Klin Onkol. 2014;27 Suppl 1:S61-8. doi: 10.14735/amko20141s61.

Abstract

Development of new sequencing methods allowed faster and more economical genomic research. With these technologies, it is now possible to determine the complete sequence of human genome in a short time period and at a relatively low cost. Introduction of next generation sequencing methods to cancer research provided a comprehensive molecular characterization of cancers and enabled deeper insights into tumor complexity, heterogeneity and evolution. Next generation technologies have been applied to identify new causal mutations in genes in hereditary cancer syndromes. More than 15 various tumor types have been already sequenced and compared to that of normal cells allowing identification of new cancer driving mutations and genome structural rearrangements. In this review, we describe technical characteristics of main next generation sequencing platforms, briefly overview their pros and cons and clinical perspective.

摘要

新测序方法的发展使得基因组研究更快且更经济。借助这些技术,现在能够在短时间内以相对较低的成本确定人类基因组的完整序列。将新一代测序方法引入癌症研究,提供了癌症全面的分子特征,并能更深入地洞察肿瘤的复杂性、异质性和进化。新一代技术已被用于识别遗传性癌症综合征中基因的新致病突变。超过15种不同的肿瘤类型已被测序,并与正常细胞的序列进行比较,从而得以识别新的癌症驱动突变和基因组结构重排。在本综述中,我们描述了主要新一代测序平台的技术特征,简要概述了它们的优缺点以及临床应用前景。

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