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理解宏基因组下一代测序作为传染病诊断工具的优缺点。

Understanding the Promises and Hurdles of Metagenomic Next-Generation Sequencing as a Diagnostic Tool for Infectious Diseases.

机构信息

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Department of Laboratory Medicine, University of California, San Francisco.

出版信息

Clin Infect Dis. 2018 Feb 10;66(5):778-788. doi: 10.1093/cid/cix881.

Abstract

Agnostic metagenomic next-generation sequencing (mNGS) has emerged as a promising single, universal pathogen detection method for infectious disease diagnostics. This methodology allows for identification and genomic characterization of bacteria, fungi, parasites, and viruses without the need for a priori knowledge of a specific pathogen directly from clinical specimens. Although there are increasing reports of mNGS successes, several hurdles need to be addressed, such as differentiation of colonization from infection, extraneous sources of nucleic acid, method standardization, and data storage, protection, analysis, and interpretation. As more commercial and clinical microbiology laboratories develop mNGS assays, it is important for treating practitioners to understand both the power and limitations of this method as a diagnostic tool for infectious diseases.

摘要

基于宏基因组的下一代测序(mNGS)作为一种有前途的单一、通用的传染病病原体检测方法,已经在医学领域崭露头角。该方法可以直接从临床标本中,无需事先了解特定病原体,对细菌、真菌、寄生虫和病毒进行鉴定和基因组特征分析。尽管 mNGS 的成功案例越来越多,但仍有几个障碍需要解决,例如区分定植和感染、核酸的外源来源、方法标准化以及数据存储、保护、分析和解释。随着越来越多的商业和临床微生物学实验室开发 mNGS 检测方法,临床医生了解该方法作为传染病诊断工具的优缺点非常重要。

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