Network-based copy number variation analysis
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.
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- Vandin, F., Upfal, E., & Raphael, B. J. (2012). De novo discovery of mutated driver pathways in cancer. Genome Research, 22(2), 375–385. · DOI 10.1101/gr.120477.111
- Leiserson, M. D. M., Vandin, F., Wu, H.-T., Dobson, J. R., Eldridge, J. V., Thomas, J. L., Papoutsaki, A., Kim, Y., Niu, B., McLellan, M., Lawrence, M. S., Gonzalez-Perez, A., Tamborero, D., Cheng, Y., Ryslik, G. A., Lopez-Bigas, N., Getz, G., Ding, L., & Raphael, B. J. (2015). Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes. Nature Genetics, 47(2), 106–114. · DOI 10.1038/ng.3168
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