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Updated: Nov 22, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
CNA2Subpathway: identification of dysregulated subpathway driven by copy number alterations in cancer
Yuqi Sheng1, Ying Jiang2, Yang Yang1
1College of Bioinformatics Science and Technology, Harbin Medical University, China.
Abstract:
Biological pathways reflect the key cellular mechanisms that dictate disease states, drug response and altered cellular function. The local areas of pathways are defined as subpathways (SPs), whose dysfunction has been reported to be associated with the occurrence and development of cancer. With the development of high-throughput sequencing technology, identifying dysfunctional SPs by using multi-omics data has become possible. Moreover, the SPs are not isolated in the biological system but interact with each other. Here, we propose a network-based calculated method, CNA2Subpathway, to identify dysfunctional SPs is driven by somatic copy number alterations (CNAs) in cancer through integrating pathway topology information, multi-omics data and SP crosstalk. This provides a novel way of SP analysis by using the SP interactions in the system biological level. Using data sets from breast cancer and head and neck cancer, we validate the effectiveness of CNA2Subpathway in identifying cancer-relevant SPs driven by the somatic CNAs, which are also shown to be associated with cancer immune and prognosis of patients. We further compare our results with five pathway or SP analysis methods based on CNA and gene expression data without considering SP crosstalk. With these analyses, we show that CNA2Subpathway could help to uncover dysfunctional SPs underlying cancer via the use of SP crosstalk. CNA2Subpathway is developed as an R-based tool, which is freely available on GitHub (https://github.com/hanjunwei-lab/CNA2Subpathway).
Insights
We developed CNA2Subpathway, a network-based tool to identify dysfunctional subpathways (SPs) in cancer by analyzing somatic copy number alterations (CNAs) and their interactions. This method reveals cancer-relevant SPs linked to patient prognosis and immune response.
Area of Science:
- * Computational biology and bioinformatics.
- * Cancer genomics and systems biology.
Background:
- * Biological pathways are crucial for understanding disease states and drug responses.
- * Subpathways (SPs), localized pathway regions, are implicated in cancer development.
- * Identifying dysfunctional SPs using multi-omics data is increasingly feasible.
Purpose of the Study:
- * To propose a novel network-based method, CNA2Subpathway, for identifying cancer-associated dysfunctional SPs driven by somatic copy number alterations (CNAs).
- * To integrate pathway topology, multi-omics data, and SP crosstalk for a systems-level analysis.
- * To validate the method's effectiveness in identifying cancer-relevant SPs and their association with patient outcomes.
Main Methods:
- * Developed CNA2Subpathway, a network-based computational method.
- * Integrated somatic copy number alteration (CNA) data, multi-omics data, and subpathway (SP) crosstalk information.
- * Utilized pathway topology and SP interaction networks.
Main Results:
- * Validated CNA2Subpathway using breast and head and neck cancer datasets.
- * Identified cancer-relevant SPs driven by CNAs, correlating with patient immune profiles and prognosis.
- * Demonstrated superior performance compared to methods ignoring SP crosstalk.
Conclusions:
- * CNA2Subpathway effectively uncovers dysfunctional SPs in cancer by leveraging SP crosstalk.
- * The tool provides a novel approach for SP analysis at a systems biological level.
- * CNA2Subpathway is available as an R-based tool on GitHub for broader research application.
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