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第三代测序技术透视

A window into third-generation sequencing.

机构信息

Pacific Biosciences, 1380 Willow Road, Menlo Park, CA 94025, USA.

出版信息

Hum Mol Genet. 2010 Oct 15;19(R2):R227-40. doi: 10.1093/hmg/ddq416. Epub 2010 Sep 21.

Abstract

First- and second-generation sequencing technologies have led the way in revolutionizing the field of genomics and beyond, motivating an astonishing number of scientific advances, including enabling a more complete understanding of whole genome sequences and the information encoded therein, a more complete characterization of the methylome and transcriptome and a better understanding of interactions between proteins and DNA. Nevertheless, there are sequencing applications and aspects of genome biology that are presently beyond the reach of current sequencing technologies, leaving fertile ground for additional innovation in this space. In this review, we describe a new generation of single-molecule sequencing technologies (third-generation sequencing) that is emerging to fill this space, with the potential for dramatically longer read lengths, shorter time to result and lower overall cost.

摘要

第一代和第二代测序技术引领了基因组学及其他领域的革命,推动了大量科学进步,包括更全面地了解全基因组序列及其编码信息,更全面地描述甲基组和转录组,以及更好地理解蛋白质与 DNA 之间的相互作用。然而,目前仍有一些测序应用和基因组生物学领域超出了现有测序技术的范围,为该领域的进一步创新留下了广阔的空间。在这篇综述中,我们描述了新一代的单分子测序技术(第三代测序)正在兴起,以填补这一空白,其具有显著更长的读长、更短的结果时间和更低的总体成本的潜力。

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