单细胞测序相关技术及其在生物医学研究中的应用

Development of single-cell sequencing and its biomedical applications

近年来单细胞测序技术(single cell sequencing,SCS)克服传统的基因组学研究难以反映单个细胞遗传信息的缺陷,通过下一代测序(next generation sequencing,NGS)方法观察单个细胞的基因组序列。细胞异质性是生物系统和生物组织的普遍特征,单细胞测序技术揭示不同细胞群体间的遗传差异,有利于细化细胞分类和扩充生命树分支。目前,该技术在基础研究的多个方面产生广泛影响,部分实现临床转化,如在肿瘤和辅助生殖技术上得以应用。本文将对单细胞测序的基本原理、在生物医学研究中的主要应用、现存的优势与不足等做一概述。

In recent years,single cell sequencing(SCS)is conducive to improving traditional sequencing methods by next generation sequencing(NGS)technology to detect genome sequence of single cell.SCS reveals common feature of biological tissue and biological system,heterogeneity,among different cell populations,there⁃fore greatly benefits the more detailed classification of cell types and also the biological system.At present,SCS is spreading its wide influence on several aspects of preclinical medicine research,and even parts of the technology has transformed to clinic usages,such as tumor diagnosis and assisted reproductive technology.In this review,we summarized the basic technologies and main applications of SCS,and also discussed the strengths and weakness.