摘要几乎所有的病原体均有DNA或RNA基因组,测序技术理论上可有效检测出所有病原体基因组,从而为感染性疾病的病原学诊断提供帮助.下一代测序(Next generation sequencing ,NGS)或高通量测序,自2005年问世以来,随着技术的成熟和运用,其低成本、高效率、高准确性的特点使之成为临床鉴定病原体微生物的有利技术平台.宏基因组二代测序( Metagenomicnext generation sequencing,mNGS)作为一项新的测序技术,在感染性疾病中,特别是常规诊断方法存在局限性的领域,如新发传染病、少见疾病等,对提高诊断效率和准确性有巨大的潜力.本文介绍了高通量测序常见平台及测序原理,综述了mNGS检测在不同病原微生物导致的感染性疾病中的临床应用及其优势,反思其局限性,并寻求可能的解决方案.

abstractsAlmost all pathogens have DNA or RNA genomes.Theoretically, genomes of pathogens can be effectively detected by sequencing technology , it would be of value for etiological diagnosis of infectious diseases.The next generation sequencing ( NGS) emerged in 2005, the advantages of low cost , high efficiency and high accuracy make it a favorable technical platform for clinical identification of microorganisms.As a new sequencing technique , metagenomic next generation sequencing ( mNGS) has great potential in improving the accuracy and efficiency of pathogenic diagnosis , especially in the areas where conventional diagnostic methods have limitations.This article introduces the common platforms and principle of the high throughput sequencing , reviews the clinical applications and the advantages of mNGS in identification of different pathogenic microorganisms , and reflects on its limitations and seeks possible solutions.