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Multi-omics eQTL Analysis×eQTL 분석×
분야생물정보학생물정보학
계열Process / pipelineProcess / pipeline
기원 연도2010s–present (foundational eQTL work: ~2007; multi-omics integration: ~2013–2017)2001 (term coined); widely adopted after 2005
창시자GTEx Consortium and multi-omics integration pioneers (Nica & Dermitzakis, 2013; GTEx Consortium, 2015–2020)Ritsert C. Jansen & Jan-Peter Nap
유형Integrative genomic association analysisAssociation mapping method
원전GTEx Consortium. (2017). Genetic effects on gene expression across human tissues. Nature, 550(7675), 204–213. link ↗Jansen, R. C., & Nap, J.-P. (2001). Genetical genomics: the added value from segregation. Trends in Genetics, 17(7), 388–391. DOI ↗
별칭multi-omics molQTL, multi-layer eQTL, integrated eQTL analysis, xQTL multi-omicseQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study
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.eQTL analysis identifies genomic loci (variants, typically SNPs) whose genotype statistically associates with variation in the expression level of one or more genes. By jointly profiling DNA-level variation and RNA-level expression in the same individuals, eQTL studies decode the regulatory grammar of the genome — revealing which variants control how much a gene is transcribed, in which tissues, and under what conditions.
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