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Multi-omics eQTL Analysis×단일 세포 eQTL 분석×
분야생물정보학생물정보학
계열Process / pipelineProcess / pipeline
기원 연도2010s–present (foundational eQTL work: ~2007; multi-omics integration: ~2013–2017)2020
창시자GTEx Consortium and multi-omics integration pioneers (Nica & Dermitzakis, 2013; GTEx Consortium, 2015–2020)Cuomo et al.; Kim-Hellmuth et al. (pioneering sc-eQTL frameworks, 2020)
유형Integrative genomic association analysisStatistical genomics pipeline
원전GTEx Consortium. (2017). Genetic effects on gene expression across human tissues. Nature, 550(7675), 204–213. link ↗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 ↗
별칭multi-omics molQTL, multi-layer eQTL, integrated eQTL analysis, xQTL multi-omicssc-eQTL analysis, single-cell eQTL mapping, scRNA-seq eQTL, cell-type-specific eQTL
관련66
요약Multi-omics eQTL analysis maps genetic variants (SNPs or structural variants) to molecular phenotypes simultaneously across multiple omics layers — transcriptome, epigenome, proteome, and metabolome — in the same cohort. By linking genotype to gene expression and then tracing those effects through downstream molecular layers, the approach reveals how genetic variation propagates through the molecular machinery of a cell, yielding mechanistic insight that no single-omics eQTL study can provide.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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