sv-callers
sv-callers implements a portable workflow to execute multiple structural variant (SV) detection tools in parallel on short-read whole-genome sequencing data for identification of somatic and germline SVs in cancer and other genetic studies.
Key Features:
- Parallel execution: Executes multiple structural variant detection tools concurrently to increase throughput and enable comparison of results.
- Support for short-read WGS: Targets SV detection from short-read whole-genome sequencing data.
- Multi-caller integration: Leverages diverse SV calling algorithms simultaneously to improve comprehensiveness and robustness of SV detection.
- Portability: Provides a workflow that can be deployed across different computing systems and platforms.
- Extensibility: Allows configuration and integration of additional analysis tools into the workflow.
Scientific Applications:
- Somatic SV analysis: Detection and characterization of somatic structural variants in cancer genomes.
- Germline SV discovery: Identification of germline structural variants in human genomic studies.
- Cross-platform SV analyses: Performing SV analyses across different computational platforms to support comparative studies.
- Genomic studies of disease: Supporting investigations into the role of structural variants in cancer and other genetic diseases.
Methodology:
Runs multiple structural variant detection tools in parallel and supports configuration and integration of additional analysis tools within a portable workflow for execution across computing systems.
Topics
Details
- License:
- Apache-2.0
- Maturity:
- Mature
- Tool Type:
- command-line tool, workflow
- Operating Systems:
- Linux
- Programming Languages:
- Java, Python
- Added:
- 5/23/2018
- Last Updated:
- 11/24/2024
Operations
Publications
Kuzniar A, Maassen J, Verhoeven S, Santuari L, Shneider C, Kloosterman W, de Ridder J. A portable and scalable workflow for detecting structural variants in whole-genome sequencing data. 2018 IEEE 14th International Conference on e-Science (e-Science). 2018. doi:10.1109/escience.2018.00064.
Kuzniar A, Maassen J, Verhoeven S, Santuari L, Shneider C, Kloosterman WP, de Ridder J. sv-callers: a highly portable parallel workflow for structural variant detection in whole-genome sequence data. PeerJ. 2020;8:e8214. doi:10.7717/peerj.8214. PMID:31934500. PMCID:PMC6951283.
Kuzniar A. sv-callers workflow [Internet]. Zenodo; 2022. Available from: https://zenodo.org/record/1217111
Kuzniar A, Santuari L. Test data for sv-callers workflow [Internet]. Zenodo; 2020. Available from: https://zenodo.org/doi/10.5281/zenodo.2663307
Documentation
Downloads
- Tool wrapper (Other)Version: 1.1.2https://github.com/GooglingTheCancerGenome/sv-callers