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[从桑格测序到基因组测序——DNA测序技术概述]

[From Sanger to genome sequencing - an overview of DNA sequencing technologies].

作者信息

Marcinkowska-Swojak Małgorzata, Rakoczy Magdalena, Podkowiński Jan, Handschuh Jurand, Wojciechowski Paweł, Handschuh Luiza

机构信息

Pracownia Genomiki, Instytut Chemii Bioorganicznej Polskiej Akademii Nauk, Poznań.

Politechnika Poznańska.

出版信息

Postepy Biochem. 2024 Jul 1;70(2):173-189. doi: 10.18388/pb.2021_534.

DOI:10.18388/pb.2021_534
PMID:39083466
Abstract

There is no technique that would make a greater contribution to the development of genetics, molecular biology and medicine than DNA sequencing. For many years, the method based on enzymatic DNA synthesis developed by Frederic Sanger was the gold standard in this area. At the end of the 20th century, there was a dynamic development of next-generation sequencing (NGS) technologies, which ended the era of single gene analysis and initiated the era of genome sequencing. Despite fierce competition, one NGS technology has practically completely dominated the global market. In the article, we present our own review of DNA sequencing methods, starting from the Sanger method to high-throughput second- and third-generation sequencing technologies, with particular emphasis on those that have achieved commercial success. We present their short history, principles of operation, technical possibilities, applications and limitations. In the summary, we reveal how much human genome sequencing costs at the current stage of the genomic revolution and outline the prospects for further development of genomics.

摘要

没有哪种技术能比DNA测序对遗传学、分子生物学和医学的发展做出更大贡献。多年来,弗雷德里克·桑格开发的基于酶促DNA合成的方法一直是该领域的金标准。20世纪末,下一代测序(NGS)技术蓬勃发展,终结了单基因分析时代,开启了基因组测序时代。尽管竞争激烈,但有一种NGS技术几乎完全主导了全球市场。在本文中,我们对DNA测序方法进行了综述,从桑格法到高通量第二代和第三代测序技术,特别强调了那些取得商业成功的技术。我们介绍了它们的简短历史、操作原理、技术能力、应用和局限性。在总结中,我们揭示了在基因组革命的当前阶段人类基因组测序的成本,并概述了基因组学进一步发展的前景。

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