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Assemble ONT genomes #516

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merged 4 commits into from
Jan 17, 2025
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fellen31
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@fellen31 fellen31 commented Nov 28, 2024

This PR updates hifiasm to 0.24.0, which adds beta support for ONT assembly with flag--ont. Therefore assembly is now run by default with the ONT_R10 profile.

Closes #515 and #518.

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 fellen31 force-pushed the ont-assembly branch 2 times, most recently from 96b1d4a to b60d62e Compare November 28, 2024 11:39
@fellen31 fellen31 linked an issue Jan 16, 2025 that may be closed by this pull request
@fellen31 fellen31 marked this pull request as ready for review January 16, 2025 10:14
@fellen31 fellen31 requested a review from a team as a code owner January 16, 2025 10:14
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@Lucpen Lucpen left a comment

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Nice work! I just have one question 😄

Comment on lines 51 to 53
deepvariant_model_type = params.preset == 'ONT_R10' ? 'ONT_R104' : 'PACBIO'
hifiasm_preset = params.preset == 'ONT_R10' ? '--ont' : ''
minimap2_read_mapping_preset = params.preset == 'ONT_R10' ? 'lr:hq' : 'map-hifi'
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@Lucpen Lucpen Jan 16, 2025

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I am not sure I follow this part, if params.preset == 'ONT_R10' then hifiasm_preset = --ont, otherwise its empty, right? If so, won't whatever is given as a parameter --hifiasm_preset be overwritten?

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@fellen31 fellen31 Jan 16, 2025

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Yes, then it will be empty. However, it should be working the other way around, so whatever is given with --hifiasm_preset on the command line will overwrite what is set in nextflow.config ('' or --ont).

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ok, that makes sense then 😄
Perhaps it would be good to add a test?

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A test with --preset ONT_R10 is already there if that's what you mean, you can see the snapshot of the assembly outputs in tests/samplesheet_multisample_ont_bam.nf.test.snap.

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Sorry, yeah you are right, I was thinking more on the test config side, but if its there as an nf-core test, that should be enough

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@fellen31 fellen31 Jan 17, 2025

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Ah, okay. It would be nice, perhaps when I have fixed the stubs so we don't need to do it with a real run.

This parameter is not (edit) very likely to be changed on its own, but I double checked manually and --preset ONT_R10 results in the --ont flag being added to hifiasm, but --preset ONT_R10 --hifiasm_preset="" results in nothing added to hifiasm.

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🚀

@fellen31 fellen31 merged commit 3198ff6 into genomic-medicine-sweden:dev Jan 17, 2025
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Update hifiasm to 0.24.0 Assemble ONT genomes
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