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A snakemake workflow for benchmarking variant calling approaches with Genome in a Bottle (GIAB), CHM (syndip) or other custom datasets

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snakemake-workflows/dna-seq-benchmark

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Snakemake workflow: dna-seq-benchmark

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A Snakemake workflow for benchmarking variant calling approaches with Genome in a Bottle (GIAB) data (and other custom benchmark datasets). The workflow uses a combination of bedtools, mosdepth, rtg-tools, pandas and datavzrd.

Usage

The usage of this workflow is described in the Snakemake Workflow Catalog.

If you use this workflow in a paper, don't forget to give credits to the authors by citing the URL of this (original) benchmark-giabsitory and its DOI (see above).

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A snakemake workflow for benchmarking variant calling approaches with Genome in a Bottle (GIAB), CHM (syndip) or other custom datasets

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