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序贯合成测序和下一代测序革命。

Sequential sequencing by synthesis and the next-generation sequencing revolution.

机构信息

Science for Life Laboratory, Department of Protein Science, KTH Royal Institute of Technology, Stockholm, Sweden; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Departments of Bioengineering and Applied Physics, Stanford University, Stanford, CA, USA; Chan Zuckerberg Initiative, Redwood City, California, USA, Stanford, CA, USA.

出版信息

Trends Biotechnol. 2023 Dec;41(12):1565-1572. doi: 10.1016/j.tibtech.2023.06.007. Epub 2023 Jul 21.

DOI:10.1016/j.tibtech.2023.06.007
PMID:37482467
Abstract

The impact of next-generation sequencing (NGS) cannot be overestimated. The technology has transformed the field of life science, contributing to a dramatic expansion in our understanding of human health and disease and our understanding of biology and ecology. The vast majority of the major NGS systems today are based on the concept of 'sequencing by synthesis' (SBS) with sequential detection of nucleotide incorporation using an engineered DNA polymerase. Based on this strategy, various alternative platforms have been developed, including the use of either native nucleotides or reversible terminators and different strategies for the attachment of DNA to a solid support. In this review, some of the key concepts leading to this remarkable development are discussed.

摘要

下一代测序(NGS)的影响怎么强调都不为过。该技术改变了生命科学领域,大大增进了我们对人类健康和疾病的理解,以及对生物学和生态学的理解。如今,绝大多数主要的 NGS 系统都是基于“合成测序”(SBS)的概念,利用工程化的 DNA 聚合酶顺序检测核苷酸的掺入。基于这一策略,已经开发出了各种替代平台,包括使用天然核苷酸或可逆终止子,以及将 DNA 固定在固体支持物上的不同策略。在这篇综述中,讨论了促成这一显著发展的一些关键概念。

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