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Restore GERP annotations #206

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Restore GERP annotations #206

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alkc
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@alkc alkc commented Jun 27, 2024

Description and reviewer info

This update restores the GERP convservation score from dbNSFP/VEP

Fixes #205

Might have to wait until #191 is merged.

This update does not restore GERP to the rank models, might be a better idea to do it as a part of #191 or as a minor patch after #191 has been merged into master.

Type of change

  • Documentation
  • Patch
  • Minor change
  • Major change

Checklist

  • Self-review of my code
  • Update the CHANGELOG
  • Tag the latest commit (vX.Y.Z format)
  • Log samples used for testing in the Verification_samples_log Excel sheet
  • GERP_RS scores added in CSQ fields for SNVs/indels
  • GERP score extracted into INFO-field by modify_scout_vcf.pl

Documentation

  • At least one other person has reviewed my changes (not required for trivial changes)

Patch

  • Stub run completes without errors or new warnings
  • At least one other person has reviewed and approved my code (not required for trivial changes)

Major / Minor change

  • Stub run completes without errors or new warnings
  • onco run finishes without any new warnings/errors and the results can
    be loaded into scout
  • wgs single run finishes without any new warnings/errors and the results
    can be loaded into scout
  • wgs trio run finishes without any new warnings/errors and the results
    can be loaded into scout
  • At least one other person has reviewed and approved my code
  • I have made corresponding changes to the documentation (software versions, etc.)

Test/review documentation

Review performed by

  • Alexander
  • Jakob
  • Paul
  • Ryan
  • Viktor

(Add if missing)

Testing performed by

  • Alexander
  • Jakob
  • Paul
  • Ryan
  • Viktor

@alkc alkc marked this pull request as draft June 27, 2024 08:38
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GERP annotations missing
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