@@ -65,7 +65,10 @@ Options:
6565 --steps Specify what steps to run, comma separated: (default: manta, vep)
6666 Callers: manta, fermikit
6767 Annotation: vep, snpeff
68- Extra: normalize (with vt)
68+ Extra: normalize (with vt),
69+ filter (with bed files in masks_filters/, by default swegen is used)
70+ --sg_mask_ovlp Fractional overlap for use with the filter option
71+ --no_sg_reciprocal Don't use a reciprocal overlap for the filter option
6972 --outdir Directory where resultfiles are stored (default: results)
7073 --prefix Prefix for result filenames (default: no prefix)
7174```
@@ -101,14 +104,23 @@ usage message for information on them.
101104The next section has the reference assembly to use, both as fasta and assembly
102105name.
103106
104- You may want to use different versions of the modules used by this workflow, and
105- the ` modules ` section contains all of them and their
106- versions. Customize the modules here, NOT in the ` main.nf ` file.
107-
108- Finally the ` runtime ` section has the different runtimes for the different
109- parts of the workflow. ` fermikit ` has it's own timespec since that is a very
110- long running program, otherwise the workflow differentiates between ` callers `
111- and other supporting ` simple ` single-core jobs.
107+ You may want to use different versions of the modules used by this workflow,
108+ currently you will have to edit the profiles to do that. On uppmax we have the
109+ milou profile which specifies all the modules and versions, see the
110+ ` config/milou.config ` .
111+
112+ The runtimes of the different programs is set in the ` config/standard.config `
113+ file. That file also specifies how to deal with errors and the interaction
114+ with the Slurm scheduler, you probably don't want to change those unless you
115+ know what you are doing.
116+
117+ The two folders ` masks_artifacts ` and ` masks_filters ` contain bed files to
118+ filter the vcf-files from the callers. The artifact directory contains files
119+ that should mask out problematic regions, it removes everything that has an
120+ overlaps at least 25% with a region in the artifact mask. The filter one is
121+ for more stringent filtering of already known variants, and here the default
122+ filter threshold is instead a reciprocal overlap of 95%. It can be customized
123+ with the two options ` sg_mask_ovlp ` (default 0.95) and ` no_sg_reciprocal ` .
112124
113125
114126## Support
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