方法对比

	eQTL分析	拷贝数变异分析
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	2001 (term coined); widely adopted after 2005	1998–2006
提出者	Ritsert C. Jansen & Jan-Peter Nap	Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map)
类型	Association mapping method	Genomic structural variant detection pipeline
开创性文献	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.
别名	eQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study	CNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis
相关	6	6
摘要	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.