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Move reference preparation to main.nf#754

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ramprasadn merged 14 commits intodevfrom
paramsinsubwfs1
Dec 11, 2025
Merged

Move reference preparation to main.nf#754
ramprasadn merged 14 commits intodevfrom
paramsinsubwfs1

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PR checklist

This PR moves reference generation from raredisease.nf to main.nf.

  • 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 pipelines lint).
  • Ensure the test suite passes (nextflow run . -profile test,docker --outdir <OUTDIR>).
  • Ensure the test suite passes (nextflow run . -profile test_singleton,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).

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github-actions bot commented Dec 10, 2025

nf-core pipelines lint overall result: Passed ✅ ⚠️

Posted for pipeline commit a8819f5

+| ✅ 219 tests passed       |+
#| ❔   7 tests were ignored |#
!| ❗  19 tests had warnings |!
Details

❗ Test warnings:

  • pipeline_if_empty_null - ifEmpty(null) found in /home/runner/work/raredisease/raredisease/subworkflows/local/align_sentieon/main.nf: _ mq_metrics = SENTIEON_DATAMETRICS.out.mq_metrics.ifEmpty(null) // channel: [ val(meta), path(mq_metrics) ]
    _
  • pipeline_if_empty_null - ifEmpty(null) found in /home/runner/work/raredisease/raredisease/subworkflows/local/align_sentieon/main.nf: _ qd_metrics = SENTIEON_DATAMETRICS.out.qd_metrics.ifEmpty(null) // channel: [ val(meta), path(qd_metrics) ]
    _
  • pipeline_if_empty_null - ifEmpty(null) found in /home/runner/work/raredisease/raredisease/subworkflows/local/align_sentieon/main.nf: _ gc_metrics = SENTIEON_DATAMETRICS.out.gc_metrics.ifEmpty(null) // channel: [ val(meta), path(gc_metrics) ]
    _
  • pipeline_if_empty_null - ifEmpty(null) found in /home/runner/work/raredisease/raredisease/subworkflows/local/align_sentieon/main.nf: _ gc_summary = SENTIEON_DATAMETRICS.out.gc_summary.ifEmpty(null) // channel: [ val(meta), path(gc_summary) ]
    _
  • pipeline_if_empty_null - ifEmpty(null) found in /home/runner/work/raredisease/raredisease/subworkflows/local/align_sentieon/main.nf: _ aln_metrics = SENTIEON_DATAMETRICS.out.aln_metrics.ifEmpty(null) // channel: [ val(meta), path(aln_metrics) ]
    _
  • pipeline_if_empty_null - ifEmpty(null) found in /home/runner/work/raredisease/raredisease/subworkflows/local/align_sentieon/main.nf: _ is_metrics = SENTIEON_DATAMETRICS.out.is_metrics.ifEmpty(null) // channel: [ val(meta), path(is_metrics) ]
    _
  • schema_lint - Input mimetype is missing or empty
  • local_component_structure - rank_variants.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - annotate_consequence_pli.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - annotate_structural_variants.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - annotate_mobile_elements.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - call_snv.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - generate_cytosure_files.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - gens.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - call_structural_variants.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - annotate_mt_snvs.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - call_mobile_elements.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - variant_evaluation.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure
  • local_component_structure - annotate_genome_snvs.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure

❔ Tests ignored:

  • files_exist - File is ignored: conf/modules.config
  • files_unchanged - File ignored due to lint config: .github/CONTRIBUTING.md
  • files_unchanged - File ignored due to lint config: .github/PULL_REQUEST_TEMPLATE.md
  • files_unchanged - File ignored due to lint config: assets/nf-core-raredisease_logo_light.png
  • 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
  • modules_config - modules_config

✅ Tests passed:

Run details

  • nf-core/tools version 3.5.1
  • Run at 2025-12-11 12:26:02

@ramprasadn
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@nf-core-bot fix linting

@ramprasadn ramprasadn marked this pull request as ready for review December 11, 2025 09:48
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@fellen31 fellen31 left a comment

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Nice with more tested tools 🚀

Comment on lines 39 to 40
skip_tools = 'fastp,gens,haplogrep3,peddy,germlinecnvcaller,qualimap,eklipse,ngsbits'
skip_subworkflows = "mt_annotation,mt_subsample,sv_annotation"
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Comment on lines +18 to +25
include { CREATE_HGNCIDS_FILE } from './modules/local/create_hgncids_file'
include { CREATE_PEDIGREE_FILE } from './modules/local/create_pedigree_file'
include { parseSkipList } from './subworkflows/local/utils_nfcore_raredisease_pipeline'
include { PIPELINE_INITIALISATION } from './subworkflows/local/utils_nfcore_raredisease_pipeline'
include { PIPELINE_COMPLETION } from './subworkflows/local/utils_nfcore_raredisease_pipeline'


include { PREPARE_REFERENCES } from './subworkflows/local/prepare_references'
include { RAREDISEASE } from './workflows/raredisease'
include { SCATTER_GENOME } from './subworkflows/local/scatter_genome'
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Why did you decide on moving these subworkflows here?

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I decided to move them here for two reasons:

  1. These steps relate to reference files, not the actual analysis, so it makes logical sense to keep them outside the main analysis flow.
  2. When I eventually create a “download references” workflow, it will be easier to connect it with “prepare references” if these steps are kept separate.

Comment on lines +235 to +245
skip_eklipse = parseSkipList(params.skip_tools, 'eklipse')
skip_fastp = parseSkipList(params.skip_tools, 'fastp')
skip_fastqc = parseSkipList(params.skip_tools, 'fastqc')
skip_gens = parseSkipList(params.skip_tools, 'gens')
skip_germlinecnvcaller = parseSkipList(params.skip_tools, 'germlinecnvcaller')
skip_haplogrep3 = parseSkipList(params.skip_tools, 'haplogrep3')
skip_ngsbits = parseSkipList(params.skip_tools, 'ngsbits')
skip_peddy = parseSkipList(params.skip_tools, 'peddy')
skip_qualimap = parseSkipList(params.skip_tools, 'qualimap')
skip_smncopynumbercaller = parseSkipList(params.skip_tools, 'smncopynumbercaller')
skip_vcf2cytosure = parseSkipList(params.skip_tools, 'vcf2cytosure')
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@ramprasadn ramprasadn requested a review from fellen31 December 11, 2025 16:10
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Bit hard to review with so many parts moving, but snapshots and everything else looks good so looks fine to me!

@ramprasadn ramprasadn merged commit af4f89b into dev Dec 11, 2025
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Tack tack!

@ramprasadn ramprasadn deleted the paramsinsubwfs1 branch December 15, 2025 09:48
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3 participants