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Better documentation of the masking step
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README.md

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@@ -29,11 +29,32 @@ You can choose to run either of the two structural variation callers or both
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### Masking
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#### Artifact masking
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The pipeline will use the following mask files to remove known artifacts:
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* From [cc2qe/speedseq](https://github.com/cc2qe/speedseq): https://github.com/cc2qe/speedseq/raw/master/annotations/ceph18.b37.lumpy.exclude.2014-01-15.bed
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* From [lh3/varcmp](https://github.com/lh3/varcmp): https://github.com/lh3/varcmp/raw/master/scripts/LCR-hs37d5.bed.gz
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You can configure the location of the artifact mask files with the
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`--mask_artifact_dir` command line option.
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#### Cohort masking
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The pipeline can take bed files to filter variants. To run the pipeline with
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filters put the `bed` files in the `mask_cohort/` subdirectory and add the
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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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nextflow run NBISweden/wgs-structvar --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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`--mask_cohort_dir` command line option.
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## Detailed usage
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