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评估可纠正解码测序作为一种新的强大的 DNA 测序策略。

Evaluation of the correctable decoding sequencing as a new powerful strategy for DNA sequencing.

机构信息

State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing, China.

State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing, China

出版信息

Life Sci Alliance. 2022 Apr 14;5(8). doi: 10.26508/lsa.202101294. Print 2022 Aug.

Abstract

Next-generation sequencing (NGS) promises to revolutionize precision medicine, but the existing sequencing technologies are limited in accuracy. To overcome this limitation, we propose the correctable decoding sequencing strategy, which is a duplex sequencing protocol with conservative theoretical error rates of 0.0009%. This rate is lower than that for Sanger sequencing. Here, we simulate the sequencing reactions by the self-developed software, and find that this approach has great potential in NGS in terms of sequence decoding, reassembly, error correction, and sequencing accuracy. Besides, this approach can be compatible with most SBS-based sequencing platforms, and also has the ability to compensate for some of the shortcomings of NGS platforms, thereby broadening its application for researchers. Hopefully, it can provide a powerful new protocol that can be used as an alternative to the existing NGS platforms, enabling accurate identification of rare mutations in a variety of applications in biology and medicine.

摘要

下一代测序(NGS)有望彻底改变精准医学,但现有的测序技术在准确性上存在局限性。为了克服这一限制,我们提出了可纠正解码测序策略,这是一种具有保守理论错误率为 0.0009%的双链测序协议。这一速率低于 Sanger 测序。在这里,我们通过自主开发的软件模拟测序反应,发现该方法在 NGS 的序列解码、重新组装、纠错和测序准确性方面具有巨大潜力。此外,该方法可以与大多数基于 SBS 的测序平台兼容,并且还具有弥补部分 NGS 平台缺点的能力,从而拓宽了其在研究人员中的应用。希望它能够提供一种强大的新协议,可以替代现有的 NGS 平台,实现对生物学和医学中各种应用中罕见突变的准确识别。

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