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Release 0.4.0 #514

Merged
merged 117 commits into from
Jan 15, 2025
Merged

Release 0.4.0 #514

merged 117 commits into from
Jan 15, 2025

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fellen31
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@fellen31 fellen31 commented Nov 22, 2024

Release 0.4.0 which brings:

  • Severus as the new default SV caller
  • LongPhase as the new default phaser
  • Family (case) level annotations for all variants
  • FOUND_IN= tags in VCFs
  • CNV and SV merging with SVDB
  • GitHub pages documentation
  • DeepVariant vcfstatsreport
  • Annotation of SVs and CNVs
  • Ranking of SVs and CNVs
  • Filtering of variants (clinical set)
  • Renamed output files, directories and parameters
  • More and improved nf-tests
  • Dynamic methods description
  • A metro map
  • and more...

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
  • Make sure your code lints (nf-core pipelines lint).
  • Ensure the test suite passes (nextflow run . -profile test,docker --outdir <OUTDIR>).
  • Check for unexpected warnings in debug mode (nextflow run . -profile debug,test,docker --outdir <OUTDIR>).
  • Usage Documentation in docs/usage.md is updated.
  • Output Documentation in docs/output.md is updated.
  • CHANGELOG.md is updated.
  • README.md is updated (including new tool citations and authors/contributors).

fellen31 and others added 30 commits August 30, 2024 11:34
Rename and add nf-test to structural variant calling
Update paraphase to compress and index VCFs within the module
Remove filter_vep, add missing SNV section and PED file information t…
Change SV multisample merging to allow for other callers
* Remove fastq QC concatenation

* Fix configs

* Fix outputs and tests

* fix config formatting

* fix schema

* Fix CHANGELOG.md
* Add Zenodo badge

* Add Zenodo text
* Add CI test profiles to nf-test, and only use nf-test

* Fix configs

* Fix configs
* Sort output SNVs

* Link to issue
* Fixed, added and updated minimap2 presets

* Update CHANGELOG.md

Co-authored-by: Anders Jemt <[email protected]>

* prettier

---------

Co-authored-by: Anders Jemt <[email protected]>
* Fix release test profile paths

* Update changelog and schema
@rannick rannick self-requested a review January 8, 2025 09:21
rannick
rannick previously approved these changes Jan 8, 2025
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Amazing work! A few comments on things that I think we should make sure work as intended

.nf-core.yml Show resolved Hide resolved
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withLabel:error_ignore {
errorStrategy = 'ignore'
}
withLabel:error_retry {
errorStrategy = 'retry'
maxRetries = 2
}

withName: '.*:SAMTOOLS_MERGE' {
withName: 'SAMTOOLS_MERGE|SAMTOOLS_INDEX' {
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In the base.config? I would have put it in a more specific config, but if it complicates things too much, nevermind

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Was suggested to put it here previously, do you think it would be better in the subworkflow config?


cat <<-END_VERSIONS > versions.yml
"${task.process}":
add_most_severe_pli: v1.0
add_most_severe_pli: 1.0
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Would it make sense to version the script in addition?

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@fellen31 fellen31 Jan 8, 2025

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I think so, I added a version (as 1.0) for the MultiQC-report, but the script is from raredisease: https://github.com/nf-core/raredisease/blob/dev/bin/add_most_severe_pli.py

Do you have a good idea on how to do it, for both pipelines?

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How about a module? One such as DOUBLETDETECTION, with the script in a templates folder? I am not sure it solves the versioning issue completely but at least you would have an easy way to share the script

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Cool, I was not aware that it could be done that way. I will look into it (but not before for the release), and see if we can have it as a module in nf-core.

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Continuing here: nf-core/raredisease#663

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fellen31 and others added 20 commits January 8, 2025 16:19
* without collect only one family per run is filtered

* CHANGELOG

* CHANGELOG
@fellen31 fellen31 requested a review from Schmytzi January 13, 2025 13:24
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Great Job! 🚀

@fellen31 fellen31 merged commit 9d9d550 into master Jan 15, 2025
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4 participants