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Raredisease add QC check for contamination and adapters #4183

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merged 4 commits into from
Feb 6, 2025

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@peterpru peterpru commented Feb 5, 2025

Description

This PR aims to add a QC check for adapter content and sample contamination.

For the reviewer, adapter content is calculated using a 0.005 fraction of bases as cutoff (0.5%), using read length and the number of sequenced reads for a sample. Sample contamination is retrieved from haplocheck output, where the result is YES or NO.

Added

  • Raredisease QC check adapter content
  • Raredisease QC check sample contamination

Changed

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 raredisease-add-haplocheck-to-qc

How to test

  • Do cg workflow raredisease metrics-deliver amusingmarmoset

Expected test outcome

  • Check that command completes without errors.
image
  • Check that the new metrics are in the output yaml.
  • Take a screenshot and attach or copy/paste the output.
image image

Confirmed the calculated adapter cutoff in excel using PF_BASES as input:
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 ...

@peterpru peterpru added the raredisease Issues related to nextflow raredisease pipeline label Feb 5, 2025
@peterpru peterpru self-assigned this Feb 5, 2025
@peterpru peterpru marked this pull request as ready for review February 6, 2025 08:16
@peterpru peterpru requested a review from a team as a code owner February 6, 2025 08:16
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@diitaz93 diitaz93 left a comment

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Looks great 💯

Co-authored-by: Sebastian Diaz <juan.sebastian.diaz.boada@scilifelab.se>
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sonarqubecloud bot commented Feb 6, 2025

@peterpru peterpru merged commit f1516b8 into master Feb 6, 2025
10 checks passed
@peterpru peterpru deleted the raredisease-add-haplocheck-to-qc branch February 6, 2025 08:45
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2 participants