方法对比

	拷贝数变异分析	变异检测
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	1998–2006	2009–2010 (modern high-throughput era)
提出者	Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map)	Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)
类型	Genomic structural variant detection pipeline	Computational genomics pipeline
开创性文献	Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454.	McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., ... & DePristo, M. A. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20(9), 1297–1303.
别名	CNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis	SNP calling, genotyping from sequencing, mutation detection, variant detection
相关	6	6
摘要	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.	Variant calling is the computational process of identifying positions in a sequenced genome that differ from a reference sequence — including single nucleotide polymorphisms (SNPs), small insertions and deletions (indels), and structural variants. It transforms aligned sequencing reads into an interpretable catalogue of genetic differences, forming the foundation for population genetics, disease-gene discovery, and clinical genomics applications.