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README.md

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@@ -26,6 +26,11 @@ This is a pipeline for running the two structural variation callers fermikit
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and manta on UPPMAX.
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You can choose to run either of the two structural variation callers or both
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(and generate summary files).
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The main focus on this pipeline is to enable better comparisions with the
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SweGen dataset, the default parameters for the tools are the same that were
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used for that dataset. If you have access to the structural variants in the
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swegen dataset you can add that file to the pipeline and thereby have the
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ability to filter population specific variants.
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### Masking
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`mask_cohort` option to the `--steps` comma separated command line argument, eg:
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```bash
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mkdir mask_cohort
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cp some_bed_file.bed mask_cohort/
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cp some_bed_file.bed <path-to-wgs-structvar>/mask_cohort/
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nextflow run NBISweden/wgs-structvar --project <uppmax_project_id> --bam <bamfile.bam> --steps manta,normalize,vep,mask_cohort
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nextflow run <path-to-wgs-structvar>/main.nf --project <uppmax_project_id> --bam <bamfile.bam> --steps manta,normalize,vep,mask_cohort
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```
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You can configure the location of the cohort mask files with the

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