三代测序技术及其应用研究进展

doi:10.16431/j.cnki.1671-7236.2019.08.007

Abstract

Abstract:

DNA sequencing not only helps us better to understand the nature of life, biological differences, different biological evolutions and developmental history of organisms, but also provides direction for recombinant DNA research, and has very important practical value in disease diagnosis and genotyping.Firstly, from the discovery that DNA is a genetic material, we briefly review the entire development process of the first, second and third generation sequencing technologies, their respective advantages and disadvantages, and the main sequencing technologies or platforms in each.Secondly, we focus on the third generation sequencing typical technology developed by PacBio, including single molecule Real time (SMRT), Oxford Nanopore Technologies (ONT), introduce the principles, methods and technical processes, and summarize the application areas of the third generation sequencing technology, including the genomic resequencing, do novo sequencing, transcriptome studies, methylation testing, disease-related structural variation testing and the application of viral quasispecies analysis in epidemiology.Thirdly, the advantages of three generations of sequencing techniques in transcriptome sequencing and epigenetics are compared, the third generation sequencing technology has obvious advantages in research fields, such as genomic repeat regions or structural variations, and very meaningful for the study of various diseases, it is considered to be an important and accurate diagnostic tool in the future.In addition, breeders can artificially select individuals by establishing associations between genes and traits by analyzing the genetic information of important economic species, which greatly shortens the breeding period.Finally, we prospect the future application of the third generation sequencing technology in medicine, agriculture and environment.

Key words: the third generation sequencing; single molecule sequencing; long reads; structural variations

CLC Number:

MA Lina, YANG Jinbo, DING Yifei, LI Yingkang. Research Progress on Three Generations Sequencing Technology and Its Application[J]. , 2019, 46(8): 2246-2256.

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Research Progress on Three Generations Sequencing Technology and Its Application

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