方法对比

	Single-cell RNA-seq analysis	单细胞 eQTL 分析
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	2009 (first scRNA-seq by Tang et al.); widely adopted 2015–2016	2020
提出者	Azim Surani, Barbara Treutlein, and the Regev/McCarroll groups (foundational droplet-based methods ~2015)	Cuomo et al.; Kim-Hellmuth et al. (pioneering sc-eQTL frameworks, 2020)
类型	High-throughput single-cell transcriptomic profiling pipeline	Statistical genomics pipeline
开创性文献	Satija, R., Farrell, J. A., Gennert, D., Schier, A. F., & Regev, A. (2015). Spatial reconstruction of single-cell gene expression data. Nature Biotechnology, 33(5), 495–502.	Cuomo, A. S. E., et al. (2020). Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nature Communications, 11(1), 810.
别名	scRNA-seq, single-cell transcriptomics, scRNAseq analysis, single-cell gene expression profiling	sc-eQTL analysis, single-cell eQTL mapping, scRNA-seq eQTL, cell-type-specific eQTL
相关	5	6
摘要	Single-cell RNA sequencing (scRNA-seq) analysis characterises gene expression at the resolution of individual cells, enabling discovery of cell types, states, and transitions that are invisible in bulk transcriptomics. Starting from raw sequencing reads, the workflow produces a cell-by-gene count matrix and proceeds through quality control, normalisation, dimensionality reduction, unsupervised clustering, cell-type annotation, and a range of downstream analyses such as trajectory inference and differential expression between cell populations.	Single-cell eQTL analysis identifies genetic variants (eQTLs) that regulate gene expression in a cell-type-specific manner by jointly analysing single-cell RNA-seq profiles and donor genotype data. Unlike bulk eQTL methods, it resolves regulatory effects that are diluted or masked when cell types are mixed, enabling discovery of variants whose effects are confined to particular cell states or developmental stages.