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sniffles: add forced calling (--genotype-vcf) - #13111

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aksenia merged 8 commits into
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aksenia:sniffles-genotype-vcf
Oct 14, 2026
Merged

aksenia merged 8 commits into
nf-core:masterfrom
aksenia:sniffles-genotype-vcf

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@aksenia

@aksenia aksenia commented Oct 9, 2026 •

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Adds forced calling (--genotype-vcf) to the existing sniffles module, as suggested in the review of #13105. Sniffles genotypes a known set of structural variants in the same BAM/CRAM and writes the same --vcf output as regular calling, with the known SVs as one additional optional file.

  • New optional genotype_vcf in the first input tuple (tuple val(meta), path(input), path(index), path(genotype_vcf), [] for regular calling) and a --genotype-vcf argument built from it. This changes the input of the module, so callers need to add an empty fourth element.
  • A gzipped sites VCF is decompressed first, because Sniffles reads the file as plain text (Sniffles 2.8.1 bug with handling vcf.gz files fritzsedlazeck/Sniffles#613).
  • Tests: the existing tests get the extra []; three new tests (gzipped sites VCF, plain sites VCF, stub) use the small HG002 ONT subset and known-SV VCF added in Add HG002 ONT SV genotyping test data test-datasets#2302. The test config uses the calling arguments only when no sites file is given.
  • No existing long-read test data had a matching known-SV VCF at a depth where heterozygous and homozygous genotypes can be called (see add meta to bwa index #2302).

Replaces #13105.

Generated by Claude

PR checklist

Closes #13106

  • 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 module conventions in the contribution docs
  • If necessary, include test data in your PR. (test data PR: Add HG002 ONT SV genotyping test data test-datasets#2302, merged)
  • Remove all TODO statements.
  • Broadcast software version numbers to topic: versions - See version_topics
  • Follow the naming conventions.
  • Follow the parameters requirements.
  • Follow the input/output options guidelines.
  • Add a resource label
  • Use BioConda and BioContainers if possible to fulfil software requirements.
  • Ensure that the test works with either Docker / Singularity. Conda CI tests can be quite flaky:
    • For modules:
      • nf-core modules test <MODULE> --profile docker
      • nf-core modules test <MODULE> --profile singularity
      • nf-core modules test <MODULE> --profile conda

@github-actions github-actions Bot added the size/l label Oct 9, 2026
@aksenia

aksenia commented Oct 9, 2026

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Hi @awgymer ! Is this what you had in mind for the extended module instead of the new one?

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aksenia marked this pull request as ready for review October 9, 2026 06:50
Comment thread modules/nf-core/sniffles/meta.yml Outdated
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aksenia requested a review from awgymer October 9, 2026 08:45
@aksenia

aksenia commented Oct 12, 2026

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@awgymer is this looking good now? I am not sure what is the procedure for replacing a module - is it just to merge?

Comment thread modules/nf-core/sniffles/main.nf Outdated
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awgymer commented Oct 13, 2026

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Not quite sure what you mean by replace as this is just updating the current module, once I'm happy with the above then I will approve and you can merge as long as the tests are passing

@github-actions github-actions Bot added size/xl and removed size/l labels Oct 13, 2026
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This PR exceeds the recommended size of 1000 lines. Please make sure you are NOT addressing multiple issues with one PR. Note this PR might be rejected due to its size.

@aksenia
aksenia requested a review from awgymer October 13, 2026 09:52
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aksenia added this pull request to the merge queue Oct 14, 2026
Merged via the queue into nf-core:master with commit 8858e20 Oct 14, 2026
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aksenia deleted the sniffles-genotype-vcf branch October 14, 2026 06:45
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sniffles: add forced calling (--genotype-vcf)

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