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On-line Access: 2023-09-17

Received: 2023-01-09

Revision Accepted: 2023-06-06

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Citations:  Bibtex RefMan EndNote GB/T7714

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Journal of Zhejiang University SCIENCE B

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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, Jinhua, 321000, China

Corresponding email(s):  jhmyj71@sina.cn

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


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Ying LIU, Yongjun MA. Clinical applications of metagenomics next-generation sequencing in infectious diseases[J]. Journal of Zhejiang University Science B,in press.Frontiers of Information Technology & Electronic Engineering,in press.https://doi.org/10.1631/jzus.B2300029

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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, 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.

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