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| Anàlisi de variació del nombre de còpies basada en xarxes× | Anàlisi de Variació del Nombre de Còpies× | |
|---|---|---|
| Camp | Bioinformàtica | Bioinformàtica |
| Família | Process / pipeline | Process / pipeline |
| Any d'origen≠ | 2011–2015 | 1998–2006 |
| Autor original≠ | Fabio Vandin, Benjamin Raphael and colleagues (HotNet framework); Matthew Leiserson et al. (HotNet2) | Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map) |
| Tipus≠ | Computational network analysis pipeline | Genomic structural variant detection pipeline |
| Font seminal≠ | Vandin, F., Upfal, E., & Raphael, B. J. (2012). De novo discovery of mutated driver pathways in cancer. Genome Research, 22(2), 375–385. DOI ↗ | 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 ↗ |
| Àlies | network CNV analysis, CNV network propagation, graph-based CNV analysis, network-integrated copy number analysis | CNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis |
| Relacionats | 6 | 6 |
| Resum≠ | Network-based copy number variation analysis integrates genome-wide CNV data with biological interaction networks — such as protein-protein interaction (PPI) or pathway networks — to identify functionally coherent regions, driver genes, and altered subnetworks that raw CNV calling alone would miss. By propagating CNV signals through the network graph, the method reveals coordinated genomic dosage imbalances that converge on common biological functions, making it especially powerful in cancer genomics and rare-disease studies. | 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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