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

Operations