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@@ -12,13 +12,15 @@ mv ./nextflow ~/bin
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### Run the pipeline
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```bash
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nextflow run NBISweden/wgs-structvar --project <uppmax_project_id> --bam <bamfile.bam> --run_all
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nextflow run NBISweden/wgs-structvar --project <uppmax_project_id> --bam <bamfile.bam> --steps manta,fermikit,vep
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```
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This will run both manta and fermikit and create summary files for everything
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in the `results` subdirectory.
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This will run both manta and fermikit, annotate the results with variant
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effect predictor and create summary files for everything in the `results`
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subdirectory.
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It is recommended that you set the environment variable `NXF_WORK` to something like
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It is recommended that you set the environment variable `NXF_WORK` to
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something like
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```bash
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export NXF_WORK=$SNIC_NOBACKUP/work
@@ -41,6 +43,56 @@ 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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## Detailed usage
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### Command line options
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```
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Usage:
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nextflow main.nf --bam <bamfile> [more options]
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Options:
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Required
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--bam Input bamfile
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--project Uppmax project to log cluster time to
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Optional:
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(default values in parenthesis where applicable)
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--help Show this message and exit
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--fastq Input fastqfile (default is bam but with fq as fileending)
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Used by fermikit, will be created from the bam file if
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missing.
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--steps Specify what steps to run, comma separated (manta,vep):
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Callers: manta, fermikit
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Annotation: vep, snpeff
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--outdir Directory where resultfiles are stored (results)
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--prefix Prefix for result filenames ()
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```
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### Customization
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The file `nextflow.config` can be used to make some further customizations to
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the workflow.
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It's probably only the `params` scope of the config file that is of interest
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to customize.
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The first part has the default values for the command line parameters, see the
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usage message for information on them.
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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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The `modules` section contains all modules used by the workflow and their
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versions, change 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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