Skip to content

Add option to analyse only mitochondria#608

Merged
ramprasadn merged 9 commits into
devfrom
mito
Sep 24, 2024
Merged

Add option to analyse only mitochondria#608
ramprasadn merged 9 commits into
devfrom
mito

Conversation

@ramprasadn

@ramprasadn ramprasadn commented Sep 13, 2024

Copy link
Copy Markdown
Collaborator

PR checklist

I have added a new analysis type (mito) to call and annotate only mitochondrial variants.

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

@github-actions

github-actions Bot commented Sep 13, 2024

Copy link
Copy Markdown

nf-core lint overall result: Passed ✅ ⚠️

Posted for pipeline commit 877cb31

+| ✅ 187 tests passed       |+
#| ❔   7 tests were ignored |#
!| ❗   1 tests had warnings |!
Details

❗ Test warnings:

  • pipeline_todos - TODO string in awsfulltest.yml: You can customise AWS full pipeline tests as required

❔ 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 2.14.1
  • Run at 2024-09-24 13:00:26

@ramprasadn ramprasadn marked this pull request as ready for review September 20, 2024 08:50
@ramprasadn ramprasadn requested a review from Lucpen September 20, 2024 08:50
@ramprasadn

Copy link
Copy Markdown
Collaborator Author

@Lucpen @jemten Could you guys take a look at this PR?

@fellen31 fellen31 left a comment

Copy link
Copy Markdown
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Could you update the docs as well, to add the new analysis_type? And if there are any changes to the output.

emit:
vcf = SVDB_MERGE.out.vcf // channel: [ val(meta), path(vcf)]
tbi = TABIX_TABIX.out.tbi // channel: [ val(meta), path(tbi)]
vcf = ch_merged_svs // channel: [ val(meta), path(vcf)]

Copy link
Copy Markdown
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

If only mito analysis is run, are no SV calls emitted?

Copy link
Copy Markdown
Collaborator Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

SV in mitochondria will be emitted, but not the nuclear genome if that's what you are asking? 😅

Copy link
Copy Markdown
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Okay, so the mitochondria SVs are not input into SVDB_MERGE and emitted as ch_merged_svs, that is only the nuclear genome?

Copy link
Copy Markdown
Collaborator Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Ah I see what you mean. That does include nuclear genome and mt genome, but the difference is those calls are in vcf format. mito analysis at the moment does not generate SV calls in vcf format. I can update the documentation to make this clear.

Copy link
Copy Markdown
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

I think that would be good, to clarify if the SV calls in VCF format contains MT calls or not, just as you have done for the SNV VCFs 😊

Copy link
Copy Markdown
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

So if you run with --analysis_type mito no VCFs are procured, only the output files from CALL_SV_MT? Or are any of MANTA, TIDDIT, GERMLINECNVCALLER or CNVNATOR be run at the same time as --analysis_type mito?

And if you run with wgs, both the output files from CALL_SV_MT, as well as mitochondrial variants in VCF format from the callers in CALL_STRUCTURAL_VARIANTS are output?

Copy link
Copy Markdown
Collaborator Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Yupe. That's right!

@fellen31 fellen31 left a comment

Copy link
Copy Markdown
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Nice!

@ramprasadn ramprasadn merged commit c3aacee into dev Sep 24, 2024
@jemten jemten deleted the mito branch September 24, 2024 13:33
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Labels

None yet

Projects

None yet

Development

Successfully merging this pull request may close these issues.

2 participants