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基于网络的拷贝数变异分析×基于网络的全基因组关联研究×
领域生物信息学生物信息学
方法族Process / pipelineProcess / pipeline
起源年份2011–20152011–2013 (early tools); mature framework by 2015
提出者Fabio Vandin, Benjamin Raphael and colleagues (HotNet framework); Matthew Leiserson et al. (HotNet2)Jia et al. (dmGWAS, 2011); Baranzini et al.; multiple concurrent groups
类型Computational network analysis pipelineNetwork-augmented association analysis
开创性文献Vandin, F., Upfal, E., & Raphael, B. J. (2012). De novo discovery of mutated driver pathways in cancer. Genome Research, 22(2), 375–385. DOI ↗Wang, Q., Yu, H., Zhao, Z., & Jia, P. (2015). EW_dmGWAS: edge-weighted dense module search for genome-wide association studies and gene expression profiles. Bioinformatics, 31(15), 2591–2594. link ↗
别名network CNV analysis, CNV network propagation, graph-based CNV analysis, network-integrated copy number analysisnetwork GWAS, gene network GWAS, network-informed GWAS, NbGWAS
相关66
摘要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.Network-based GWAS integrates conventional genome-wide association study results with biological network data — such as protein-protein interaction (PPI) networks or gene co-expression graphs — to identify disease-relevant gene modules or subnetworks. Instead of reporting only the top individual SNPs, this approach propagates association signals through molecular interaction networks, surfacing gene clusters whose collective signal implicates them in complex-trait biology even when no single variant reaches genome-wide significance alone.
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  1. v1
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  3. PUBLISHED

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ScholarGate方法对比: Network-based copy number variation analysis · Network-based GWAS. 于 2026-06-17 检索自 https://scholargate.app/zh/compare