宏基因组测序病原微生物检测生物信息学分析规范化管理专家共识.pdfVIP

中华检验医学杂志2021年9月第44卷第9期 ChinJLabMed,September2021,Vol.44,No.9 ·799 · ·指南与共识· 宏基因组测序病原微生物检测生物信息学 分析规范化管理专家共识 中华医学会检验医学分会 通信作者：鲁辛辛，Email：luxinxin2009 126.com；王成彬，Email：wangcb301 126.com 【摘要】 宏基因组测序（mNGS）在新发突发传染病以及常规检验阴性的感染性疾病诊断中发挥 了重要作用。近期，国内相继发表了多个共识阐述了临床应用及实验室规范，但生物信息分析程序及 方法也是mNGS重要环节，而目前学界尚未有一致的认识。为提高临床对mNGS结果的理解，本共识 根据国内外的发展现状，结合国内测序实验室常规做法，阐述生物信息学分析的规范化管理内容。 【关键词】 宏基因组下一代测序； 病原微生物； 生物信息学； 规范化； 共识 基金项目：国家科技重大专项（2014Z2018Z2018Z；国家重点 研发计划（2019YFC1200702） Expert consensus on the standardized management of bioinformatics analysis for the detection of pathogenic microorganisms in mNGS Chinese Society of Laboratory Medicine Corresponding author: Lu Xinxin, Email: luxinxin2009 @126. com; Wang Chengbin, Email: wangcb301 @ 126.com 【Abstract 】 Metagenomicsnext‐generationsequencing (mNGS) is significant for microbial identification, and plays an unparalleled role in the diagnosis of infectious diseases which are new outbreaks or have not been clearly diagnosed with conventional methods. Recently, China has published some articles mentioning the clinical application and laboratory standards of mNGS. However, the management of bioinformatics analysis is also an important part of mNGS, which has not been fully introduced at present. In order to improve the clinical understanding of mNGS results, this consensus expounds management content of bioinformatics analysis based on the development status at home and abroad, combined with the conventional practices of domestic sequencing laboratories. 【Key words 】 Metagenomics next‐generation sequencing; Pathogenic microorganism; Bioinformatics; Standardization; Consensus Fund programs: National Science and Technology Major Project of China (2014Z 2018Z 2018Z; National Key Research and Devel