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Add option to analyse only mitochondria #608

Merged
merged 9 commits into from
Sep 24, 2024
Merged

Add option to analyse only mitochondria #608

merged 9 commits into from
Sep 24, 2024

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ramprasadn
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@ramprasadn ramprasadn commented Sep 13, 2024

PR checklist

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

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nf-core lint overall result: Passed ✅ ⚠️

Posted for pipeline commit 877cb31

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

❗ Test warnings:

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❔ Tests ignored:

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

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@fellen31 fellen31 left a comment

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

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

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

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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.

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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 😊

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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?

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Yupe. That's right!

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Nice!

@ramprasadn ramprasadn merged commit c3aacee into dev Sep 24, 2024
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@jemten jemten deleted the mito branch September 24, 2024 13:33
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2 participants