Next-generation sequencing.
Next-generation sequencing.
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下一代测序。
DOI：
10.1155/2010/370710
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发表时间：
2010
影响因子：
--
通讯作者：
Yu,Fuli
中科院分区：
文献类型：
--
作者：
Xiong,Momiao;Zhao,Zhongming;Arnold,Jonathan;Yu,Fuli
基因组序列正在塑造未来的生物医学研究，这一点已被广泛认识。基因组序列为将片段DNA信息组装成生物结构和功能的景观提供了一个总体框架[1]。DNA测序技术的快速发展正在给生物医学研究带来革命性的变化，从2005年开始，各种大规模并行测序仪器如Roche/454、Life Technologies SOLiD和Illumina平台被用于人类和模式生物的基因组测序，这些仪器与基于Sanger的毛细管测序有很大不同。虽然每种仪器都有自己的属性，但所有大规模并行序列机都有一些共同的显著特征[2]。首先，减少和简化了最初的准备步骤。其次，所有平台都需要扩增文库片段。第三，测序反应是自动进行和检测的。在过去的十年中，每次运行的序列输出量急剧增加，DNA测序的每碱基成本下降了100，000倍，碱基识别的准确性也得到了很大的提高。目前的第二代测序仪可以在一周内读取2500亿个碱基。当测序变得简单和便宜时，它被常规地应用于生物医学研究。为了创建基因组变体的全面目录，下一代测序技术已被用于在1000个基因组计划中产生序列数据。它计划对2000多个个体进行测序，
It has been widely appreciated that the genome sequence is shaping the future biomedical research. The genome sequence provides a general framework for assembling fragmentary DNA information into landscape of biological structure and function [1]. The rapid advances in DNA sequencing technology are revolutionizing biomedical research.Starting in 2005, a variety of massively parallel sequencing instruments such as the Roche/454, the Life Technologies SOLiD, and the Illumina platforms which were largely different from the Sanger-based capillary sequencing were used to sequence the human and model organism genomes. Although each instrument has its own attributes, all massively parallel sequences machines share some common remarkable features [2]. First, the initial preparatory steps are reduced and simplified. Second, amplification of the library fragments is needed for all platforms. Third, sequencing reactions are performed and detected automatically. In the past decade, the amount of sequence output per run has been dramatically increased, the per-base cost of DNA sequencing has plummeted by∼ 100,000-fold, and base-calling accuracy has been largely improved. The current second-generation sequencing machines can read∼ 250 billion bases in a week. When sequencing becomes simple and inexpensive, it is being routinely applied to biomedical research. To create comprehensive catalogues of genomic variants, the next-generation sequencing technologies have been used to produce sequence data in the 1000 Genomes Project. It plans to sequence more than 2000 individuals to find