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Updated documentation
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README.md

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@@ -65,7 +65,10 @@ Options:
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--steps Specify what steps to run, comma separated: (default: manta, vep)
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Callers: manta, fermikit
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Annotation: vep, snpeff
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Extra: normalize (with vt)
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Extra: normalize (with vt),
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filter (with bed files in masks_filters/, by default swegen is used)
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--sg_mask_ovlp Fractional overlap for use with the filter option
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--no_sg_reciprocal Don't use a reciprocal overlap for the filter option
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--outdir Directory where resultfiles are stored (default: results)
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--prefix Prefix for result filenames (default: no prefix)
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```
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The next section has the reference assembly to use, both as fasta and assembly
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name.
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You may want to use different versions of the modules used by this workflow, and
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the `modules` section contains all of them and their
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versions. Customize the modules here, NOT in the `main.nf` file.
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Finally the `runtime` section has the different runtimes for the different
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parts of the workflow. `fermikit` has it's own timespec since that is a very
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long running program, otherwise the workflow differentiates between `callers`
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and other supporting `simple` single-core jobs.
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You may want to use different versions of the modules used by this workflow,
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currently you will have to edit the profiles to do that. On uppmax we have the
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milou profile which specifies all the modules and versions, see the
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`config/milou.config`.
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The runtimes of the different programs is set in the `config/standard.config`
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file. That file also specifies how to deal with errors and the interaction
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with the Slurm scheduler, you probably don't want to change those unless you
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know what you are doing.
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The two folders `masks_artifacts` and `masks_filters` contain bed files to
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filter the vcf-files from the callers. The artifact directory contains files
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that should mask out problematic regions, it removes everything that has an
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overlaps at least 25% with a region in the artifact mask. The filter one is
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for more stringent filtering of already known variants, and here the default
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filter threshold is instead a reciprocal overlap of 95%. It can be customized
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with the two options `sg_mask_ovlp` (default 0.95) and `no_sg_reciprocal`.
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## Support

main.nf

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@@ -440,6 +440,8 @@ def usage_message() {
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log.info ' Annotation: vep, snpeff'
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log.info ' Extra: normalize (with vt),'
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log.info ' filter (with bed files in masks_filters/, by default swegen is used)'
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log.info ' --sg_mask_ovlp Fractional overlap for use with the filter option'
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log.info ' --no_sg_reciprocal Don't use a reciprocal overlap for the filter option'
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log.info ' --outdir Directory where resultfiles are stored (default: results)'
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log.info ' --prefix Prefix for result filenames (default: no prefix)'
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log.info ''

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