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[DSL2] Classify Human mtDNA Haplogroup - #1148

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trianglegrrl wants to merge 12 commits into
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dsl2-haplogrep3-clean
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trianglegrrl wants to merge 12 commits into
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dsl2-haplogrep3-clean

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@trianglegrrl

@trianglegrrl trianglegrrl commented May 23, 2025 •

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Work in progress - adding mtDNA haplogroup classification

Haplogrep3 integration

  • --tree needs to be passed in from haplogrep3_tree_id
  • should we be doing this from a consensus sequence vs vcf?
  • verify RSRS support
  • Get tests passing - add to humanpopgen ci.yml
  • Filter VCF on MITOCHONDRIAL_NAME in SWF
  • Update manual testing docs
  • Test with full run (ancient0003, haplogrep3 web + CLI = "M32'56")
nextflow run main.nf -profile docker --input full_mito.csv --outdir ./results/ --run_genotyping --genotyping_tool ug --genotyping_source raw  --run_mtdna_haplogroup --fasta /references/mito/rCRS.fasta --fasta_fai /references/mito/rCRS.fasta.fai --skip_preprocessing --skip_damagecalculation --skip_qualimap -resume

[... 1h50m passes]

╰─ cat results/haplogrep3/ancient0003.txt
"SampleID"      "Haplogroup"    "Rank"  "Quality"       "Range"
"ancient0003"   "M32'56"        "1"     "0.9579"        "1-16569"

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/eager 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>).
  • 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).
@trianglegrrl
trianglegrrl changed the base branch from master to dev May 23, 2025 08:56
@trianglegrrl trianglegrrl mentioned this pull request May 23, 2025
3 of 17 tasks
@nf-core nf-core deleted a comment from github-actions Bot May 23, 2025
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