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add raredisease pedigree check #3687

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merged 13 commits into from
Sep 11, 2024
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@peterpru peterpru commented Sep 4, 2024

Description

The RareDisease requires an additional metric from the multiQC data file with respect to the other Nextflow pipelines, which is the pedigree check. This is a pair-wise sample metric, meaning there is a value for every pair of samples combination in the case. To parse them, the method get_multiqc_json_metrics from NfAnalysisAPI is overridden in RarediseaseAnalysisAPI.

Added

  • Pedigree check in raredisease QC: parent_error_ped_check

Changed

  • MEDIAN_TARGET_COVERAGE threshold to >25

Fixed

How to prepare for test

  • Ssh to relevant server (depending on type of change)
  • Use stage: us
  • Paxa the environment: paxa
  • Install on stage (example for Hasta):
    bash /home/proj/production/servers/resources/hasta.scilifelab.se/update-tool-stage.sh -e S_cg -t cg -b add-raredisease-pedigree-check

How to test

  • Do nano /home/proj/stage/analysis/cases/funkitten/multiqc/multiqc_data/multiqc_data.json and MEDIAN_TARGET_COVERAGE set to 26 for all three samples

  • Do cg workflow raredisease metrics-deliver funkitten with MEDIAN_TARGET_COVERAGE set to 26.

  • Do sed -i 's/"parent_error_ped_check": "False",/"parent_error_ped_check": "True",/g' /home/proj/stage/analysis/cases/funkitten/multiqc/multiqc_data/multiqc_data.json

  • Do cg workflow raredisease metrics-deliver funkitten

Expected test outcome

  • Check that there are no errors, and command completes as expected.
    image

  • When setting parent error to True, the command should fail. Error needs to be propagated to trailblazer
    image

  • See that the check is visible in the deliverables.yaml file:
    image

Review

  • Tests executed by
  • "Merge and deploy" approved by
    Thanks for filling in who performed the code review and the test!

This version is a

  • MAJOR - when you make incompatible API changes
  • MINOR - when you add functionality in a backwards compatible manner
  • PATCH - when you make backwards compatible bug fixes or documentation/instructions

Implementation Plan

  • Document in ...
  • Deploy this branch on ...
  • Inform to ...

@diitaz93 diitaz93 marked this pull request as ready for review September 9, 2024 10:49
@diitaz93 diitaz93 requested a review from a team as a code owner September 9, 2024 10:49
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@islean islean left a comment

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Looks good! A bit confused over certain parts of the code.

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@peterpru
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Thank you all for your comments @ChrOertlin, @islean, after multiple discussions with @diitaz93 and @jemten we have decided to keep the code as is, and add test functions to make sure it works as intended. I have marked most conversations as resolved. We can refactor the nextflow QC code in the future, or turn it into a microservice where we have it outside of cg.

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Looks good 🚀

@peterpru peterpru merged commit c476fe6 into master Sep 11, 2024
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@peterpru peterpru deleted the add-raredisease-pedigree-check branch September 11, 2024 10:25
@peterpru peterpru added the raredisease Issues related to nextflow raredisease pipeline label Sep 11, 2024
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Successfully deployed in stage:
image

Deployed in production:
image

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4 participants