中国食品药品监管Issue(5)：34-41,8.DOI:10.3969/j.issn.1673-5390.2024.05.004
病原宏基因组高通量测序生物信息学分析质量评价的研究现状与思考
The Research Status and Considerations in Quality Evaluation of Bioinformatics Analysis of Metagenomic Next-Generation Sequencing
摘要
Abstract
Metagenomic next-generation sequencing(mNGS)has become a new tool for the diagnosis of infectious pathogens,consisting of two parts:experimental procedures(wet bench)and bioinformatics analysis(dry bench).The dry bench,comprising algorithms and databases,aims to output detection results after analyzing and processing the sequencing data generated by the wet bench.The performance of the dry bench is affected by complex and variable interference factors in sequencing data,including a large number of human nucleic acids in clinical samples,microbial nucleic acids carried by reagents and consumables,environmental microbial nucleic acids introduced by sampling and experimentation,incorrect alignment and annotation caused by heterogeneous genome quality in databases or excessive similarity between genomes of different species,and the influence of algorithm and parameter differences on classification and identification.These interference factors may come from various steps of the mNGS workflow,potentially leading to incorrect species identification and microbial detection results from dry bench,and posing great challenges to its quality control and evaluation.This paper reviews the key issues of quality control of mNGS dry bench and discusses thoughts on quality evaluation methods.关键词
病原宏基因组高通量测序/生物信息学分析/质量评价/数字参考品Key words
metagenomic next-generation sequencing/bioinformatics analyses/quality evaluation/digital reference panel分类
医药卫生引用本文复制引用
刘东来,关文达,吴林寰,王浩,杨子峰,许四宏..病原宏基因组高通量测序生物信息学分析质量评价的研究现状与思考[J].中国食品药品监管,2024,(5):34-41,8.基金项目
国家重点研发计划(2022YFC2305300) （2022YFC2305300）
中国食品药品检定研究院关键技术研究基金(GJJS-2022-2-2) （GJJS-2022-2-2）
