Jämför metoder

	eQTL-analys	Analys av kopienummervariationer – detektion och tolkning av CNV
Ämnesområde	Bioinformatik	Bioinformatik
Familj	Process / pipeline	Process / pipeline
Ursprungsår	2001 (term coined); widely adopted after 2005	1998–2006
Upphovsperson	Ritsert C. Jansen & Jan-Peter Nap	Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map)
Typ	Association mapping method	Genomic structural variant detection pipeline
Ursprungskälla	Jansen, R. C., & Nap, J.-P. (2001). Genetical genomics: the added value from segregation. Trends in Genetics, 17(7), 388–391.	Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454.
Alias	eQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study	CNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis
Närliggande	6	6
Sammanfattning	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.	Copy number variation (CNV) analysis is a genomic pipeline for detecting regions where individuals carry fewer or more copies of a DNA segment than the reference genome. CNVs span kilobases to megabases and are a major class of structural variation implicated in cancer, neurodevelopmental disorders, and population diversity. The pipeline typically processes SNP array intensities or read-depth signals from whole-genome sequencing, applies segmentation algorithms, calls gain and loss events, and annotates them against gene and clinical databases.