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新一代测序平台的准确性。

Accuracy of Next Generation Sequencing Platforms.

作者信息

Fox Edward J, Reid-Bayliss Kate S, Emond Mary J, Loeb Lawrence A

机构信息

Departments of Pathology and Biochemistry, University of Washington, USA.

Department of Biostatistics, University of Washington, USA.

出版信息

Next Gener Seq Appl. 2014;1. doi: 10.4172/jngsa.1000106.

Abstract

Next-generation DNA sequencing has revolutionized genomic studies and is driving the implementation of precision diagnostics. The ability of these technologies to disentangle sequence heterogeneity, however, is limited by their relatively high error rates. A Several single molecule barcoding strategies have been propose to reduce the overall error frequency. A Duplex Sequencing additionally exploits the fact that DNA is double-strand, with one strand reciprocally encoding the sequence information of its complement, and can eliminate nearly all sequencing errors by comparing the sequence of individually tagged amplicons derived from one strand of DNA with that of its complementary strand. This method reduces errors to fewer than one per ten million nucleotides sequenced.

摘要

新一代DNA测序技术彻底改变了基因组研究,并推动了精准诊断的实施。然而,这些技术解析序列异质性的能力受到其相对较高错误率的限制。已经提出了几种单分子条形码策略来降低总体错误频率。双链测序进一步利用了DNA是双链的这一事实,其中一条链相互编码其互补链的序列信息,并且通过比较从一条DNA链衍生的单独标记扩增子的序列与其互补链的序列,可以消除几乎所有的测序错误。这种方法将错误率降低到每测序一千万个核苷酸少于一个。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dcdd/4331009/eb0a5a80aa02/nihms-655291-f0001.jpg

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