单细胞测序:技术,应用和未来发展（英文）

Single cell sequencing: technique, application,and future development

二代测序技术的快速发展正在持续不断地改变着基因组学、转录组学、表观基因组学等的研究.值得注意的是,单细胞操纵和扩增技术的进步使得二代测序技术能被很好地应用到单细胞水平的研究中.单细胞基因组测序可以帮助人们在全基因组信息层面研究肿瘤进化,精(卵)子形成过程以及体细胞镶嵌现象等;单细胞转录组测序帮助人们揭示了早期胚胎发育、细胞分化、细胞重编程等过程中基因表达的动态变化情况;单细胞表观遗传组测序技术刚刚起步,在癌症和干细胞研究等领域都有很大的应用前景.同时,许多研究正在尝试发展其他的单细胞组学研究技术.要使单细胞测序技术能有更广泛的应用,未来的技术需要具备以下特点:(1)高准确度和忠实度地对信息进行扩增;(2)能对同一个单细胞进行多个组学性质的分析;(3)高程度的自动化和标准化的操作流程.这些方面的技术进步和优化能不断降低单细胞测序技术在普通实验室的应用门槛.单细胞测序技术的广泛应用也将对未来的生物医学研究带来显著改变.

The progression of next generation sequencing is continuously changing the landscape of genomic, tran- scriptomic, and epigenomic studies. Particularly, advances in single cell manipulation and amplification techniques bring sequencing technology to the single-cell level. Single cell genome sequencing allows us to study tumor evolu- tion, gamete genesis, somatic mosaicism at genome-wide level; single cell transcriptome sequencing unveils the dynamic gene expression during early embryonic devel- opment, differentiation and reprogramming; single cell methylome sequencing is just taking off and shows great potential in cancer and stem cell studies. Lots of attempts are still being made in other dimensions of sequencing. The increasing need for single cell sequencing requires the future techniques with the following features： （1） high accuracy and fidelity; （2） able to perform multiple omics analyses in one cell; （3） high degree of automation and standardized pipeline. These progresses and improvements will lower the barrier for single cell sequencing to enter ordinary laboratories. The wide application of single cell sequencing techniques will substantially change biomedi- cal research in future.