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@jemten jemten commented Dec 18, 2023

vcf2cytosure is a tool to convert SV vcf:s to a format that can be loaded into the CytoSure interpretation software. This PR includes a subworkflow for that tool. Since the workflow and tool is fairly specific to our setup it is turned off by default. It is turned on by supplying the option --vcf2cytosure_switch

PR checklist

  • This comment contains a description of changes (with reason).
  • If you've fixed a bug or added code that should be tested, add tests!
  • If you've added a new tool - have you followed the pipeline conventions in the contribution docs
  • If necessary, also make a PR on the nf-core/raredisease branch on the nf-core/test-datasets repository.
  • Make sure your code lints (nf-core lint).
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github-actions bot commented Dec 18, 2023

nf-core lint overall result: Passed ✅ ⚠️

Posted for pipeline commit 2acb234

+| ✅ 151 tests passed       |+
#| ❔   6 tests were ignored |#
!| ❗   2 tests had warnings |!

❗ Test warnings:

  • pipeline_todos - TODO string in awsfulltest.yml: You can customise AWS full pipeline tests as required
  • pipeline_todos - TODO string in WorkflowRaredisease.groovy: Optionally add in-text citation tools to this list.

❔ Tests ignored:

  • files_exist - File is ignored: conf/modules.config
  • files_unchanged - File ignored due to lint config: .github/PULL_REQUEST_TEMPLATE.md
  • files_unchanged - File ignored due to lint config: .github/workflows/linting.yml
  • files_unchanged - File ignored due to lint config: docs/images/nf-core-raredisease_logo_light.png
  • files_unchanged - File ignored due to lint config: docs/images/nf-core-raredisease_logo_dark.png
  • files_unchanged - File ignored due to lint config: .gitignore or .prettierignore or pyproject.toml

✅ Tests passed:

Run details

  • nf-core/tools version 2.10
  • Run at 2023-12-19 17:31:22

@jemten jemten marked this pull request as ready for review December 18, 2023 15:40
@jemten jemten requested review from Lucpen and ramprasadn December 18, 2023 15:40
@jemten jemten added the ready for review PR is ready for review label Dec 18, 2023
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Great to see that it has been added! :D
Just one small thing, I would change the name of the switch to skip and set it to true by default so that it fits better the rest of the code.

Comment on lines 453 to 458
},
"vcf2cytosure_switch": {
"type": "boolean",
"description": "Turn on the vcf2cytosure subworkflow",
"fa_icon": "fas fa-toggle-on",
"help_text": "vcf2cytosure can generate CGH files from a structural variant VCF file that can be analysed in the CytoSure interpretation software. Cut offs for allele frequencies and bin sizes can be modified in the config file. Turned off by default."
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Instead of switch, I would call it something along the lines of skip_vcf2cytosure and have it set to true by default, that way it would be similar to hoe the rest of the switches are build.

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I know what you mean, it would be great to keep the naming consistent in the pipeline. I had it exactly like you suggested at first but ran into issues with turning turning the sub-workflow on using the command line. Since the flag was set to true by default, giving the option --skip_vcf2cytosure will just skip it again.

I will try to find a solution

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Looks good! :D

Comment on lines +35 to +38

withName: '.*GENERATE_CYTOSURE_FILES:VCF2CYTOSURE' {
ext.args = { [
meta.sex.equals('1') ? '--sex male' : '--sex female',
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If meta.sex is set to anything else than 1 it will default to female. I believe that is the general default of the program.

Comment on lines +35 to +38

withName: '.*GENERATE_CYTOSURE_FILES:VCF2CYTOSURE' {
ext.args = { [
meta.sex.equals('1') ? '--sex male' : '--sex female',
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If meta.sex is set to anything else than 1 it will default to female. I believe that is the general default of the program.

@jemten jemten merged commit deed7fc into nf-core:dev Dec 20, 2023
@jemten jemten deleted the vcf2cytosure branch December 20, 2023 09:57
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