方法对比

	差异性 eQTL 分析	通路富集分析
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	2003–2005
提出者	Pioneered by GTEx Consortium and Stranger et al.; formal differential testing approaches developed ~2007–2012	Mootha et al. (2003); systematised by Subramanian et al. (2005)
类型	Statistical genomics pipeline	Statistical functional annotation method
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.	Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., & Mesirov, J. P. (2005). Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles. Proceedings of the National Academy of Sciences, 102(43), 15545–15550.
别名	deQTL analysis, context-specific eQTL, interaction eQTL, conditional eQTL	PEA, overrepresentation analysis, ORA, functional enrichment analysis
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.	Pathway enrichment analysis (PEA) is a statistical approach that takes a list of genes or proteins of interest — typically derived from a differential expression or proteomics experiment — and identifies which pre-defined biological pathways or functional gene sets are represented more often than expected by chance. By mapping individual molecular changes onto curated pathway knowledge bases such as KEGG, Gene Ontology, or Reactome, PEA translates long gene lists into interpretable biological processes, making it a central tool in the post-analysis of high-throughput omics experiments.