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Epigenome-wide association study×Phân tích eQTL×
Lĩnh vựcTin sinh họcTin sinh học
HọProcess / pipelineProcess / pipeline
Năm ra đời2008–2011 (term and framework established c. 2011)2001 (term coined); widely adopted after 2005
Người khởi xướngRakyan, Down, Balding & Beck (conceptual framework); Illumina arrays enabled large-scale applicationRitsert C. Jansen & Jan-Peter Nap
LoạiPopulation-scale epigenomic association studyAssociation mapping method
Công trình gốcRakyan, V. K., Down, T. A., Balding, D. J., & Beck, S. (2011). Epigenome-wide association studies for common human diseases. Nature Reviews Genetics, 12(8), 529–541. DOI ↗Jansen, R. C., & Nap, J.-P. (2001). Genetical genomics: the added value from segregation. Trends in Genetics, 17(7), 388–391. DOI ↗
Tên gọi khácEWAS, methylome-wide association study, epigenetic association study, DNA methylation association studyeQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study
Liên quan56
Tóm tắtAn epigenome-wide association study (EWAS) is a hypothesis-free, genome-scale method that systematically tests whether epigenetic marks — predominantly CpG-site DNA methylation — differ between individuals with and without a trait, disease, or exposure. By scanning hundreds of thousands of genomic positions simultaneously, EWAS identifies loci where the epigenome is reproducibly associated with a phenotype, offering a layer of biological regulation that classical GWAS does not capture.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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