Choi Hwisoo, Kim Hyeonkyu, Chung Hoebin, Lee Dong-Sung, Kim Junil
Department of Bioinformatics, Soongsil University, 369 Sangdo-Ro, Dongjak-Gu, Seoul 06978, Republic of Korea.
Department of Biomedical Sciences, Seoul National University Graduate School, 103 Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea.
Brief Funct Genomics. 2025 Jan 15;24. doi: 10.1093/bfgp/elae044.
Recent advancements in single-cell technologies, including single-cell RNA sequencing (scRNA-seq) and Assay for Transposase-Accessible Chromatin using sequencing (scATAC-seq), have greatly improved our insight into the epigenomic landscapes across various biological contexts and diseases. This paper reviews key computational tools and machine learning approaches that integrate scRNA-seq and scATAC-seq data to facilitate the alignment of transcriptomic data with chromatin accessibility profiles. Applying these integrated single-cell technologies in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, reveals how changes in chromatin accessibility and gene expression can illuminate pathogenic mechanisms and identify potential therapeutic targets. Despite facing challenges like data sparsity and computational demands, ongoing enhancements in scATAC-seq and scRNA-seq technologies, along with better analytical methods, continue to expand their applications. These advancements promise to revolutionize our approach to medical research and clinical diagnostics, offering a comprehensive view of cellular function and disease pathology.
单细胞技术的最新进展,包括单细胞RNA测序(scRNA-seq)和利用测序进行转座酶可及染色质分析(scATAC-seq),极大地增进了我们对各种生物学背景和疾病中表观基因组景观的了解。本文综述了整合scRNA-seq和scATAC-seq数据以促进转录组数据与染色质可及性图谱比对的关键计算工具和机器学习方法。将这些整合的单细胞技术应用于神经退行性疾病,如阿尔茨海默病和帕金森病,揭示了染色质可及性和基因表达的变化如何阐明致病机制并确定潜在的治疗靶点。尽管面临数据稀疏和计算需求等挑战,但scATAC-seq和scRNA-seq技术的不断改进以及更好的分析方法,继续扩大了它们的应用范围。这些进展有望彻底改变我们进行医学研究和临床诊断的方法,提供细胞功能和疾病病理学的全面视图。