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.

PMID: 31934500
PMCID: PMC6951283
Funding: - The Netherlands eScience Center: 027016G03 - Dutch National e-infrastructure with the support of SURF Foundation: 16669

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

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