Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Restore GERP annotations #206

Open
wants to merge 5 commits into
base: master
Choose a base branch
from
Open

Restore GERP annotations #206

wants to merge 5 commits into from

Conversation

alkc
Copy link
Contributor

@alkc alkc commented Jun 27, 2024

Description and reviewer info

This update restores the GERP conservation score from dbNSFP/VEP

Fixes #205

This update does not restore GERP to the rank models, saved for separate PR

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

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)
  • Test-load one sample into scout

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
@alkc
Copy link
Contributor Author

alkc commented Feb 7, 2025

Testing pending next week when current production samples have cleared

@alkc alkc removed the status: draft label Feb 7, 2025
@alkc alkc marked this pull request as ready for review February 7, 2025 12:14
@alkc alkc requested a review from ViktorHy February 11, 2025 07:03
@alkc
Copy link
Contributor Author

alkc commented Feb 11, 2025

Confirmed w/ seracare bam-start that the annotation is added.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Projects
None yet
Development

Successfully merging this pull request may close these issues.

GERP annotations missing
1 participant