This workflow provides an easy way to call structural variants in human genomic data.
The pipeline performs the following steps:
- Maps reads using lra
- Calls variants using cuteSV
- Filters variants by minimum/maximum length, read support, or type (e.g. insertion, deletion, etc.)
- Optionally evaluates yours calls against a truthset using truvari
The workflow uses nextflow to manage compute and software resources, as such nextflow will need to be installed before attempting to run the workflow.
It is not required to clone or download the git repository in order to run the workflow. For more information on running EPI2ME Labs workflows visit out website.
To obtain the workflow, having installed
nextflow, users can run:
nextflow run epi2me-labs/wf-human-sv --help
to see the options for the workflow.
The primary outputs of the workflow include:
- A sorted, indexed VCF file containing the SV calls made.
- A sorted, indexed BAM file containing the alignments used to make the calls.
- an HTML report document detailing the primary findings of the workflow.