方法对比

	差异性 eQTL 分析	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	2007–2012	2020
提出者	Pioneered by GTEx Consortium and Stranger et al.; formal differential testing approaches developed ~2007–2012	Cuomo et al.; Kim-Hellmuth et al. (pioneering sc-eQTL frameworks, 2020)
类型	Statistical genomics pipeline	Statistical genomics pipeline
开创性文献	Stranger, B. E., et al. (2007). Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science, 315(5813), 848–853.	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	deQTL analysis, context-specific eQTL, interaction eQTL, conditional eQTL	sc-eQTL analysis, single-cell eQTL mapping, scRNA-seq eQTL, cell-type-specific eQTL
相关	6	6
摘要	Differential eQTL analysis identifies genetic variants — expression quantitative trait loci — whose regulatory effect on gene expression varies systematically across biological conditions such as tissue types, disease states, developmental stages, or treatment groups. By testing for statistical interactions between genotype and condition, the method pinpoints loci where the same allele has different transcriptional consequences depending on context, revealing the molecular basis of condition-specific gene regulation.	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.