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Panel of Normals #24

Merged
merged 22 commits into from
Sep 6, 2019
Merged

Panel of Normals #24

merged 22 commits into from
Sep 6, 2019

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maxulysse
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@maxulysse maxulysse commented Aug 15, 2019

Panel of normals (PON) is needed to filter GATK4 Mutect2 somatic calls, though also useful to annotate somatic calls produced by other software also. This PR focuses on Mutect2, and follows instructions at https://gatkforums.broadinstitute.org/gatk/discussion/11136/how-to-call-somatic-mutations-using-gatk4-mutect2

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 necessary, also make a PR on the nf-core/sarek branch on the nf-core/test-datasets repo
  • Ensure the test suite passes (nextflow run . -profile test,docker).
  • Make sure your code lints (nf-core lint .).
  • Documentation in docs is updated
  • CHANGELOG.md is updated
  • README.md is updated

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maxulysse commented Aug 15, 2019

You need to include the igenomes.config and genomes.config files, and also update the docs with Mutect2 instead of MuTect2

EDIT: Done except for GRCh37

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And if you could add some docs about the PONs that would be very nice as well

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@maxulysse maxulysse added enhancement New feature or request help wanted Extra attention is needed labels Aug 16, 2019
@maxulysse maxulysse self-assigned this Aug 16, 2019
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* `MuTect2_[TUMORSAMPLE]_vs_[NORMALSAMPLE].vcf.gz` and `MuTect2_[TUMORSAMPLE]_vs_[NORMALSAMPLE].vcf.gz.tbi`
* `Mutect2_[TUMORSAMPLE]_vs_[NORMALSAMPLE].vcf.gz` and `Mutect2_[TUMORSAMPLE]_vs_[NORMALSAMPLE].vcf.gz.tbi`
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Can you describe the new organisation of files here?

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Done

docs/output.md Outdated

For further reading and documentation see the [MuTect2 manual](https://software.broadinstitute.org/gatk/documentation/tooldocs/4.1.2.0/org_broadinstitute_hellbender_tools_walkers_mutect_Mutect2.php).
For further reading and documentation see the [Mutect2 manual](https://software.broadinstitute.org/gatk/documentation/tooldocs/4.1.2.0/org_broadinstitute_hellbender_tools_walkers_mutect_Mutect2.php).
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Can you put some lines about PON, maybe add also the comment that's in the main.nf script:

please make a panel-of-normals, using at least 40 samples
https://gatkforums.broadinstitute.org/gatk/discussion/11136/how-to-call-somatic-mutations-using-gatk4-mutect2

publishDir "${params.outdir}/VariantCalling/${idSampleTumor}_vs_${idSampleNormal}/Mutect2", mode: params.publishDirMode

input:
set caller,
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I don't think you have caller here in this channel.

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You could also group the two sets into just one with another groupTuple

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Now there is the missing caller - I would prefer to leave it it as it is as there is a fork later and it is already pretty cluttered.

tag {idSampleTumor + "_vs_" + idSampleNormal + "_" + intervalBed.baseName }

input:
set idPatient, idSampleNormal, file(bamNormal), file(baiNormal), idSampleTumor, file(bamTumor), file(baiTumor), file(intervalBed) from pairBamPileupSummaries
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I don't think bamNormal is needed in this process.

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That is true, but simpler now to multiply the channels for variant callers. We can dissect the channel and re-assemble if you feel it is bad style.

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@maxulysse maxulysse marked this pull request as ready for review September 6, 2019 09:59
@maxulysse maxulysse requested a review from a team September 6, 2019 10:00
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apeltzer commented Sep 6, 2019

The error handling code is buggy still (from the current template version unfortunately):

if (workflow.stats.ignoredCount > 0 && workflow.success) {
      log.info "${c_purple}Warning, pipeline completed, but with errored process(es) ${c_reset}"
      log.info "${c_red}Number of ignored errored process(es) : ${workflow.stats.ignoredCount} ${c_reset}"
      log.info "${c_green}Number of successfully ran process(es) : ${workflow.stats.succeedCount} ${c_reset}"
    }

Is the way to do it - can do it via an own PR ...

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Other than that minor cosmetic thing everything looks sane/good to me 👍

Co-Authored-By: Maxime Garcia <max.u.garcia@gmail.com>
@maxulysse maxulysse merged commit 2afd383 into nf-core:dev Sep 6, 2019
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3 participants