nf-core-variantbenchmarking
nf-core/variantbenchmarking is designed to evaluate and validate the accuracy of variant calling methods in genomic research. Initially, the pipeline is tuned well for available gold standard truth sets (for example, Genome in a Bottle and SEQC2 samples) but it can be used to compare any two variant calling results. The workflow provides benchmarking tools for small variants including SNVs and INDELs, Structural Variants (SVs) and Copy Number Variations (CNVs) for germline and somatic analysis.
Topics
Details
- License:
- MIT
- Maturity:
- Mature
- Cost:
- Free of charge
- Tool Type:
- workflow
- Operating Systems:
- Android, Linux, Mac, Windows, iOS
- Programming Languages:
- Other
- Added:
- 9/15/2026
- Last Updated:
- 9/15/2026