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Differential eQTL Analysis×단일 세포 eQTL 분석×
분야생물정보학생물정보학
계열Process / pipelineProcess / pipeline
기원 연도2007–20122020
창시자Pioneered by GTEx Consortium and Stranger et al.; formal differential testing approaches developed ~2007–2012Cuomo et al.; Kim-Hellmuth et al. (pioneering sc-eQTL frameworks, 2020)
유형Statistical genomics pipelineStatistical genomics pipeline
원전Stranger, B. E., et al. (2007). Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science, 315(5813), 848–853. DOI ↗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. link ↗
별칭deQTL analysis, context-specific eQTL, interaction eQTL, conditional eQTLsc-eQTL analysis, single-cell eQTL mapping, scRNA-seq eQTL, cell-type-specific eQTL
관련66
요약Differential 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.
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