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Epigenoom-brede associatiestudie (EWAS)×eQTL-analyse×
VakgebiedBio-informaticaBio-informatica
FamilieProcess / pipelineProcess / pipeline
Jaar van ontstaan2008–2011 (term and framework established c. 2011)2001 (term coined); widely adopted after 2005
GrondleggerRakyan, Down, Balding & Beck (conceptual framework); Illumina arrays enabled large-scale applicationRitsert C. Jansen & Jan-Peter Nap
TypePopulation-scale epigenomic association studyAssociation mapping method
Oorspronkelijke bronRakyan, 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 ↗
AliassenEWAS, methylome-wide association study, epigenetic association study, DNA methylation association studyeQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study
Verwant56
SamenvattingAn 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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ScholarGateMethoden vergelijken: Epigenome-wide association study · eQTL Analysis. Geraadpleegd op 2026-06-18 via https://scholargate.app/nl/compare