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エピゲノムワイド関連解析(EWAS)×eQTL解析×
分野バイオインフォマティクスバイオインフォマティクス
系統Process / pipelineProcess / pipeline
提唱年2008–2011 (term and framework established c. 2011)2001 (term coined); widely adopted after 2005
提唱者Rakyan, Down, Balding & Beck (conceptual framework); Illumina arrays enabled large-scale applicationRitsert C. Jansen & Jan-Peter Nap
種類Population-scale epigenomic association studyAssociation mapping method
原典Rakyan, 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 ↗
別名EWAS, methylome-wide association study, epigenetic association study, DNA methylation association studyeQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study
関連56
概要An 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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ScholarGate手法を比較: Epigenome-wide association study · eQTL Analysis. 2026-06-18に以下より取得 https://scholargate.app/ja/compare