Process / pipelineBioinformatics / omics
Copy Number Variation Analysis — CNV Detection and Interpretation
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.
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Sources
- Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454. DOI: 10.1038/nature05329 ↗
- Olshen, A. B., Venkatraman, E. S., Lucito, R., & Wigler, M. (2004). Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics, 5(4), 557–572. DOI: 10.1093/biostatistics/kxh008 ↗
Related methods
Referenced by
Bayesian Copy Number Variation AnalysisBayesian Variant CallingDifferential Epigenome-Wide Association StudyDifferential Variant CallingEpigenome-wide association studyeQTL AnalysisGenome-wide association studyMachine learning-assisted copy number variation analysisNetwork-based copy number variation analysisNetwork-based GWASNetwork-based variant callingSingle-cell Copy Number Variation AnalysisSingle-cell Phylogenetic AnalysisSingle-cell variant callingTime-series copy number variation analysisTime-series single-cell RNA-seq analysisVariant Calling