Nanopore测序技术在临床中的应用进展

Progress of Nanopore Sequencing Technology in Clinical Application

基因测序技术是生命科学和生物科技的核心技术之一,目前正处于从主流的二代测序技术向三代技术升级的过渡阶段。纳米孔(Nanopore)测序技术已被应用于微生物种群鉴定、全基因组测序、新物种发现等方面,更以其超长读长、实时检测和可以直接检测碱基甲基化修饰等优势在医学领域作出了较大贡献。本文描述了纳米孔测序仪(MinION)的技术特征,主要关注该技术在临床应用中的最新进展,并探讨了其发展前景。

Gene sequencing technology is one of the core technologies in life science and biotechnology,whcin is currently in the transition stage of upgrading from mainstream second-generation sequencing technology to thirdgeneration technology.The nanopore sequencing(MinION)has been applied to microbial population identification,whole genome sequencing,and new species discovery etc.,which also has made a great contribution in the medical field with its advantages of ultra-long read length,real-time detection and direct detection of base methylation modification.This paper describes the technical characteristics of of nanopore sequenccing instrument(MinION),focus on the latest advances in clinical application of this technology,as well as discusses its development prospect.