scRNA-seq与scATAC-seq数据整合分析方法及其在生物医学中的应用  

The Integration of scRNA-seq and scATAC-seq Data Analysis Methods and Their Applications in Biomedicine

作　　者：孟子行 李艳国[2] 戎浩 廖奇 MENG Zixing;LI Yanguo;RONG Hao;LIAO Qi(School of Public Health,Health Science Center,Ningbo University,Ningbo 315211,China;Institute of Drug Discovery Technology,Ningbo University,Ningbo 315211,China;Health Science Center,Ningbo University,Ningbo 315211,China)

机构地区：[1]宁波大学医学部公共卫生学院,宁波315211 [2]宁波大学新药技术研究院,宁波315211 [3]宁波大学医学部,宁波315211

出　　处：《中国细胞生物学学报》2024年第11期1985-1996,共12页Chinese Journal of Cell Biology

基　　金：宁波市自然科学基金(批准号:2021J124);宁波市重点研发计划暨“揭榜挂帅”项目(批准号:2023Z226)资助的课题。

摘　　要：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,scATACseq)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。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 researchers 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 research.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 analysis techniques is emphasized in revealing cellular molecular mechanisms,understanding disease progression,and developing novel therapeutic strategies.

关 键 词：单细胞转录组测序 单细胞染色质可及性测序 分析工具 整合分析 基因调控网络 

分 类 号：R318[医药卫生—生物医学工程] Q811.4[医药卫生—基础医学]