方法证据记录
Copy Number Variation Analysis
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.
源记录
引文逐字复制自方法源记录。这些引文不代表任何层级的验证。
Copy Number Variation Analysis
分类方法记录 · process-pipeline / bioinformatics
- 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
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