方法对比

	单细胞 eQTL 分析	RNA-seq差异表达
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	2020	2008–2010 (RNA-seq DE methodology established)
提出者	Cuomo et al.; Kim-Hellmuth et al. (pioneering sc-eQTL frameworks, 2020)	Multiple groups; foundational methods from Anders & Huber (DESeq, 2010), Robinson, McCarthy & Smyth (edgeR, 2010)
类型	Statistical genomics pipeline	Quantitative genomics pipeline
开创性文献	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.	Love, M. I., Huber, W., & Anders, S. (2014). Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biology, 15(12), 550.
别名	sc-eQTL analysis, single-cell eQTL mapping, scRNA-seq eQTL, cell-type-specific eQTL	RNA-seq DE analysis, transcriptomic differential expression, bulk RNA-seq DE, DEA
相关	6	6
摘要	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.	RNA-seq differential expression (DE) analysis identifies genes whose transcript abundance differs significantly between two or more biological conditions — for example, treated versus control, or diseased versus healthy tissue. Starting from raw sequencing reads, the pipeline moves through alignment, count-based normalization, statistical modeling of count dispersion, hypothesis testing, and multiple-testing correction to produce a ranked list of differentially expressed genes accompanied by fold-change estimates and adjusted p-values.