方法对比

	差异性 eQTL 分析	全基因组关联研究 (GWAS)
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	2005–2007
提出者	Pioneered by GTEx Consortium and Stranger et al.; formal differential testing approaches developed ~2007–2012	Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007)
类型	Statistical genomics pipeline	Observational genomic association study
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.	Wellcome Trust Case Control Consortium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145), 661–678.
别名	deQTL analysis, context-specific eQTL, interaction eQTL, conditional eQTL	GWAS, genome-wide association analysis, whole-genome association study, WGAS
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.	A genome-wide association study (GWAS) systematically tests hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) across the human genome for statistical association with a trait or disease. By comparing allele frequencies between cases and controls — or by regressing SNP genotypes on a quantitative phenotype — GWAS identifies genomic loci that harbor common genetic variants contributing to complex traits. Since its large-scale debut in 2007, GWAS has catalogued thousands of robust disease–variant associations across virtually every common human condition.