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Annotation update for chrM #157

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Annotation update for chrM #157

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@jemten jemten commented Dec 13, 2024

Description

The mitochondria can be encoded as either MT or chrM in the vcf. In the annotation step, genmod has a special rule for the mitochondria but it only kicked in when the mitochondria was encoded as MT. This PR changes the internal representation of the mitochondrial chromosome to 'M'.

Fixed

  • genmod annotate for mitochondrial variants when using the chrM notation

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_[TOOL]-t [TOOL] -b [THIS-BRANCH-NAME] -a

How to test

  • Do ...

Expected test outcome

  • Check that ...
  • Take a screenshot and attach or copy/paste the output.

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 ...

@jemten jemten marked this pull request as ready for review December 16, 2024 12:28
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