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Add GRIDSS variant calling #185

Merged
merged 15 commits into from
Nov 20, 2024
Merged

Add GRIDSS variant calling #185

merged 15 commits into from
Nov 20, 2024

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Faizal-Eeman
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@Faizal-Eeman Faizal-Eeman commented Nov 5, 2024

Description

Add GRIDSS variant calling step

Closes #178

Testing Results

  • DNA A-mini (TWGSAMIN000001-T003-S03-F)
    • sample: HG002.N-0, S2.T-0
    • input yaml: /hot/software/pipeline/pipeline-call-sSV/Nextflow/development/unreleased/mmootor-add-gridss-call/TWGSAMIN000001-T003-S03-F.yaml
    • config: /hot/software/pipeline/pipeline-call-sSV/Nextflow/development/unreleased/mmootor-add-gridss-call/TWGSAMIN000001-T003-S03-F.config
    • output: /hot/software/pipeline/pipeline-call-sSV/Nextflow/development/unreleased/mmootor-add-gridss-call/call-sSV-6.1.0/

Checklist

  • I have read the code review guidelines and the code review best practice on GitHub check-list.

  • I have reviewed the Nextflow pipeline standards.

  • The name of the branch is meaningful and well formatted following the standards, using [AD_username (or 5 letters of AD if AD is too long)]-[brief_description_of_branch].

  • I have set up or verified the branch protection rule following the github standards before opening this pull request.

  • I have added my name to the contributors listings in the manifest block in the nextflow.config as part of this pull request, am listed
    already, or do not wish to be listed. (This acknowledgement is optional.)

  • I have added the changes included in this pull request to the CHANGELOG.md under the next release version or unreleased, and updated the date.

  • I have updated the version number in the metadata.yaml and manifest block of the nextflow.config file following semver, or the version number has already been updated. (Leave it unchecked if you are unsure about new version number and discuss it with the infrastructure team in this PR.)

  • I have tested the pipeline on at least one A-mini sample with algorithm = ['delly', 'manta']. The paths to the test config files and output directories are attached above.

@Faizal-Eeman Faizal-Eeman requested a review from a team as a code owner November 5, 2024 19:22
@yashpatel6 yashpatel6 self-assigned this Nov 8, 2024
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A couple of comments:

config/F16.config Show resolved Hide resolved
module/gridss.nf Outdated Show resolved Hide resolved
module/gridss.nf Outdated Show resolved Hide resolved
module/gridss.nf Show resolved Hide resolved
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Generally looks good! One minor update:

@@ -16,6 +16,7 @@ params {
// GRCh38 blacklist - /hot/resource/tool-specific-input/GRIDSS-2.13.2/GRCh38-BI-20160721/ENCFF356LFX.bed
gridss_blacklist = "/hot/resource/tool-specific-input/GRIDSS-2.13.2/GRCh38-BI-20160721/ENCFF356LFX.bed"
gridss_reference_fasta = "/hot/resource/tool-specific-input/GRIDSS-2.13.2/GRCh38-BI-20160721/Homo_sapiens_assembly38.fasta"
other_jvm_heap = 4.GB
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suggestion: Let's move this to default.config and document it in the README; typically users won't need to change it so it can live in default and user can add it if they need to change it

@Faizal-Eeman Faizal-Eeman merged commit e6af4a9 into main Nov 20, 2024
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Add GRIDSS variant calling
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