Mihály Zsuzsanna, Gyorffy Balázs
Semmelweis Egyetem, Általános Orvostudományi Kar, I. Gyermekgyógyászati Klinika, Budapest, Bókay J. u. 53., 1083.
Orv Hetil. 2011 Jan 9;152(2):55-62. doi: 10.1556/OH.2011.29007.
In the past ten years the development of next generation sequencing technologies brought a new era in the field of quick and efficient DNA sequencing. In our study we give an overview of the methodological achievements from Sanger's chain-termination sequencing in 1975 to those allowing real-time DNA sequencing today. Sequencing methods that utilize clonal amplicons for parallel multistrand sequencing comprise the basics of currently available next generation sequencing techniques. Nowadays next generation sequencing is mainly used for basic research in functional genomics, providing quintessential information in the meta-analyses of data from signal transduction pathways, onthologies, proteomics and metabolomics. Although next generation sequencing is yet sparsely used in clinical practice, cardiology, oncology and epidemiology already show an immense need for the additional knowledge obtained by this new technology. The main barrier of its spread is the lack of standardization of analysis evaluation methods, which obscure objective assessment of the results.
在过去十年中，新一代测序技术的发展为快速高效的DNA测序领域带来了一个新时代。在我们的研究中，我们概述了从1975年桑格的链终止测序到如今实现实时DNA测序的方法学成就。利用克隆扩增子进行平行多链测序的测序方法构成了当前可用的新一代测序技术的基础。如今，新一代测序主要用于功能基因组学的基础研究，在信号转导途径、本体论、蛋白质组学和代谢组学数据的荟萃分析中提供关键信息。尽管新一代测序在临床实践中的应用还很少，但心脏病学、肿瘤学和流行病学已经显示出对这项新技术所获得的额外知识的巨大需求。其推广的主要障碍是分析评估方法缺乏标准化，这使得对结果的客观评估变得模糊不清。
