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靶向二代测序研究进展

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近年来,随着核酸分子检测技术进步和费用下降,二代测序(next-generation sequencing technology,NGS)技术已成为生物学及临床医学检测领域的一种重要技术手段.靶向二代测序(targeted next-generation sequencing,tNGS)是在NGS基础上,针对基因组特定区域DNA进行捕获,从而对其进行高通量测序的一种新方法.相较于全基因组或全外显子测序,其优势在于使用基于多重PCR技术或寡核苷酸探针杂交的快速富集方法,针对性富集目的基因进行测序,从而提高测序的平均深度,有效降低测序成本且缩短研究时间,在精准医学、遗传性疾病检测、癌症分析、药物筛选等方面得到了广泛应用.特别是在检测常见临床病原体、遗传性疾病突变、肿瘤突变等方面,tNGS技术的发展和应用正在迅速推进.本文重点介绍tNGS的主要技术路线、研究进展及其应用情况.
Research Progress of Targeted Next-generation Sequencing
In recent years,with the advancement of nucleic acid molecular detection technology and the decline in costs,next-generation sequencing technology(NGS)has become an important technical means in the field of biology and clinical medical testing.Targeted next-generation sequencing(tNGS)is a new method for high-throughput sequencing based on NGS that captures DNA in specific regions of the genome.Compared with whole-genome or whole-exome sequencing,its advantage lies in the use of rapid enrichment methods based on multiplex PCR technology or oligonucleotide probe hybridization,which can specifically enrich target genes for sequencing,thereby increasing the average depth of sequencing.It effectively reduces sequencing costs and shortens research time,and has been widely used in precision medicine,genetic disease detection,cancer analysis and drug screening.In particular,the development and application of tNGS technology is advancing rapidly in the detection of common clinical pathogens,genetic disease mutations and tumor mutations.This article focuses on the main technical routes,research progress and applications of tNGS.

targeted next-generation sequencing(tNGS)research progressapplication

周健、师永霞、张璐、戴俊、黄吉城

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广州海关技术中心 广州 510700

靶向二代测序 研究进展 应用

国家重点研发计划海关总署科研项目广州市科技局项目

2018YFE0208002023HK0102023A04J1279

2024

中国口岸科学技术
中国质检报刊社

中国口岸科学技术

影响因子:0.051
ISSN:1002-4689
年,卷(期):2024.6(4)
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