单细胞基因组测序技术新进展及其在生物医学中的应用

Advances in single-cell whole genome sequencing technology and its application in biomedicine

随着单细胞基因组测序技术的建立与发展,对细胞基因组特征的分析进入了单细胞水平。单细胞的基因组分辨率不但使研究人员能够在单细胞尺度上分析肿瘤细胞的异质性,也使得传统上难以检测的稀有细胞的基因组研究成为可能。这些稀有细胞往往具有重要的生物学意义或临床价值,如癌症患者血液中循环肿瘤细胞(circulatingtumorcell,CTC)的基因组检测或三代试管婴儿植入前胚胎细胞的遗传缺陷诊断与筛查(preimplantation genetic diagnosis/screening, PGD/PGS)。本文总结了近年来发展的各种单细胞基因组扩增技术及其优缺点,并介绍了单细胞基因组测序技术在肿瘤生物学和临床检测中的应用,以期为单细胞基因组测序技术在临床检测中应用开发提供参考。

The advent and development of single-cell whole-genome sequencing(scWGS)technology has shed lights on the genomic heterogeneities within biosamples at the single-cell resolution.The technology is particularly well-established in the recent decade and witnesses a variety of clinical applications,such as circulating tumor cell(CTC)detection and preimplantation genetic diagnosis/screening(PGD/PGS).In this review,we summarize the latest practical breakthroughs of scWGS in the field of biomedicine,with the hope of providing a guideline to apply single-cell genomic sequencing in clinical researches.