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On-line Access: 2024-08-27

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Citations:  Bibtex RefMan EndNote GB/T7714

 ORCID:

Ying LIU

0000-0002-5109-5252

Yongjun MA

0000-0001-9165-7371

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Journal of Zhejiang University SCIENCE B 2024 Vol.25 No.6 P.471-484

http://doi.org/10.1631/jzus.B2300029


Clinical applications of metagenomics next-generation sequencing in infectious diseases


Author(s):  Ying LIU, Yongjun MA

Affiliation(s):  Department of Clinical Laboratory, Affiliated Jinhua Hospital, Zhejiang University School of Medicine,Jinhua321000,China

Corresponding email(s):   jhmyj71@sina.cn

Key Words:  Metagenomics next-generation sequencing (mNGS), Infectious disease, Cerebrospinal fluid (CSF), Oxford Nanopore Technologies (ONT), Microbiome


Ying LIU, Yongjun MA. Clinical applications of metagenomics next-generation sequencing in infectious diseases[J]. Journal of Zhejiang University Science B, 2024, 25(6): 471-484.

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Abstract: 
infectious diseases are a great threat to human health. Rapid and accurate detection of pathogens is important in the diagnosis and treatment of infectious diseases. metagenomics next-generation sequencing (mNGS) is an unbiased and comprehensive approach for detecting all RNA and DNA in a sample. With the development of sequencing and bioinformatics technologies, mNGS is moving from research to clinical application, which opens a new avenue for pathogen detection. Numerous studies have revealed good potential for the clinical application of mNGS in infectious diseases, especially in difficult-to-detect, rare, and novel pathogens. However, there are several hurdles in the clinical application of mNGS, such as: (1) lack of universal workflow validation and quality assurance; (2) insensitivity to high-host background and low-biomass samples; and (3) lack of standardized instructions for mass data analysis and report interpretation. Therefore, a complete understanding of this new technology will help promote the clinical application of mNGS to infectious diseases. This review briefly introduces the history of next-generation sequencing, mainstream sequencing platforms, and mNGS workflow, and discusses the clinical applications of mNGS to infectious diseases and its advantages and disadvantages.

宏基因组二代测序技术(mNGS)在感染性疾病中的临床应用

刘颖,马拥军
浙江大学医学院附属金华医院检验科,中国金华市,321000
摘要:传染病对人类健康产生巨大威胁。快速准确地检测出病原体对于传染病的诊断和治疗非常重要。宏基因组二代测序技术(mNGS)能无差别检测样本中所有的核酸(DNA和RNA)。随着测序和生物信息学技术的发展,mNGS正从实验室研究向临床应用迈进,为病原体检测开辟了新的途径。大量研究表明,mNGS在感染性疾病的临床应用中具有良好的潜力,尤其适用于难检测、罕见和新型病原。但是,mNGS在临床应用中仍存在一些问题:(1)缺乏通用的、可验证的工作流程和质量保证;(2)对高宿主背景和低生物量的样本不敏感;(3)缺乏对海量数据分析和报告解读的标准化指导。因此,全面了解这项新技术将有助于促进mNGS在感染性疾病中的临床应用。本文简要综述了二代测序技术的发展历史、主流测序平台和mNGS工作流程,并讨论了mNGS在感染性疾病中的临床应用及该技术的优缺点。

关键词:宏基因组二代测序技术(mNGS);感染性疾病;脑脊液(CSF);牛津纳米孔技术(ONT);微生物群

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