The Third Revolution in Sequencing Technology

被引：700

作者：

van Dijk, Erwin L. ^{[1
]}

Jaszczyszyn, Yan ^{[1
]}

Naquin, Delphine ^{[1
]}

Thermes, Claude ^{[1
]}

机构：

[1] Univ Paris Saclay, Univ Paris Sud, Inst Integrat Biol Cell, CEA,CNRS,UMR9198, F-9198 Gif Sur Yvette, France

来源：

TRENDS IN GENETICS | 2018年 / 34卷 / 09期

关键词：

SINGLE-MOLECULE; HUMAN GENOME; REAL-TIME; DNA METHYLATION; STRUCTURAL VARIATION; NANOPORE; TRANSCRIPTOME; DISEASE; SURVEILLANCE; N-6-ADENINE;

D O I：

10.1016/j.tig.2018.05.008

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Forty years ago the advent of Sanger sequencing was revolutionary as it allowed complete genome sequences to be deciphered for the first time. A second revolution came when next-generation sequencing (NGS) technologies appeared, which made genome sequencing much cheaper and faster. However, NGS methods have several drawbacks and pitfalls, most notably their short reads. Recently, third-generation/long-read methods appeared, which can produce genome assemblies of unprecedented quality. Moreover, these technologies can directly detect epigenetic modifications on native DNA and allow whole-transcript sequencing without the need for assembly. This marks the third revolution in sequencing technology. Here we review and compare the various long-read methods. We discuss their applications and their respective strengths and weaknesses and provide future perspectives.

引用

页码：666 / 681

页数：16

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