随着测序技术的发展,单细胞转录组测序(single-cell RNA sequencing,scRNA-seq)与单细胞染色质可及性测序(single-cell assay for transposase-accessible chromatin sequencing,scATAC-seq)的出现可以在单细胞层面探索基因表达与染色质结构的开放程度,而两种测序数据的整合分析也为生物医学研究带来了开辟性的分析思路和方法.研究者可以获得更为全面的细胞功能与细胞状态的信息、细胞内复杂的基因调控网络,从而揭示生命活动的本质和规律.该文全面探讨了scRNA-seq与scATAC-seq数据整合工具的分析流程、原理及特点,并展示了这些工具在疾病机理研究、肿瘤学、发育生物学等领域的应用成果,凸显了整合分析技术在揭示细胞分子机制、理解疾病进程及开发新治疗策略中的独特价值.
The Integration of scRNA-seq and scATAC-seq Data Analysis Methods and Their Applications in Biomedicine
With the advancement of sequencing technologies,the advent of scRNA-seq(single-cell RNA sequencing)and scATAC-seq(single-cell assay for transposase-accessible chromatin sequencing)allows research-ers to explore gene expression and chromatin accessibility at the single-cell level.The integrative analysis of these two types of sequencing data provides groundbreaking analytical approaches and methodologies for biomedical re-search.Researchers can obtain a more comprehensive understanding of cellular functions and states,as well as the intricate gene regulatory networks within cells,thereby uncovering the fundamental principles and mechanisms of life.This manuscript provides a comprehensive discussion of the analytical processes,principles,and characteristics of available tools for integrating scRNA-seq and scATAC-seq data.It also demonstrates their application outcomes in areas such as disease mechanisms,oncology,and developmental biology.The unique value of integrative analy-sis techniques is emphasized in revealing cellular molecular mechanisms,understanding disease progression,and developing novel therapeutic strategies.