Svpluscnv
"Svpluscnv" is an R package that addresses the complexities and heterogeneities of somatic structural variations (SVs) in cancer. SVs, which vary widely in size and complexity, play a significant role in the molecular landscape of most tumor types, yet their pathogenic implications are often not fully understood. The svpluscnv package is a comprehensive tool for integrating and interpreting large SV datasets across different platforms, facilitating a deeper understanding of cancer's somatic landscape.
Key Features and Functionalities:
- **Integration of Orthogonal Datasets**: Svpluscnv excels at integrating copy number variant (CNV) segmentation profiles with sequencing-based structural variant calls. This integration is crucial for a holistic analysis of tumor genomic alterations.
- **Analysis and Visualization Tools**: The package offers a range of analysis and visualization tools designed to assess chromosomal instability and ploidy. These tools are essential for understanding the broader implications of SVs and CNVs on tumor biology.
- **Identification of Recurrent SVs and Complex Rearrangements**: Svpluscnv can identify genes harboring recurrent SVs and detect complex rearrangements, such as chromothripsis and chromoplexia. These features help elucidate the mechanisms of genomic instability and their contribution to cancer progression.
- **Systematic Identification of Shattered Genomic Regions**: The package allows for the systematic identification of hot-spot shattered genomic regions, demonstrating reproducibility across alternative detection methods and datasets. This capability is invaluable for pinpointing regions of the genome that are particularly susceptible to SV-induced disruption in various cancers.
Topic
DNA structural variation;Oncology;Whole genome sequencing;Mapping;DNA polymorphism
Detail
Operation: Genotyping;Variant calling;Visualisation
Software interface: -
Language: R
License: The GNU General Public License v3.0
Cost: Free with restrictions
Version name: 0.99.1
Credit: NIH.
Input: -
Output: -
Contact: Gonzalo Lopez gonzalo.lopezgarcia@mssm.edu
Collection: -
Maturity: -
Publications
- svpluscnv: analysis and visualization of complex structural variation data.
- Lopez G, et al. svpluscnv: analysis and visualization of complex structural variation data. svpluscnv: analysis and visualization of complex structural variation data. 2021; 37:1912-1914. doi: 10.1093/bioinformatics/btaa878
- https://doi.org/10.1093/BIOINFORMATICS/BTAA878
- PMID: 33051644
- PMC: PMC8487630
Download and documentation
Documentation: https://github.com/ccbiolab/svpluscnv/blob/master/README.md
Home page: https://github.com/ccbiolab/svpluscnv
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