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.

Sign up for GitHub

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

Jump to bottom

Add VEP annotations to the Indels #43

Open
NagaComBio opened this issue May 31, 2024 · 0 comments
Open

Add VEP annotations to the Indels #43

NagaComBio opened this issue May 31, 2024 · 0 comments
Assignees
@NagaComBio
Labels
enhancement New feature or request

Comments

@NagaComBio
Copy link
Collaborator

Feature Requirements:

  • Add VEP annotations to the Indel calls.
  • Parse transcripts with "HIGH" or "MODERATE" VEP consequences impact from the INFO column and add them to a new column with Gene, Consequences, Exon/Intron counts, HGVSc and HGVSp information.
  • Still to be decided:
    -- Should the VEP annotation be removed from the INFO column once it is parsed?
@NagaComBio NagaComBio self-assigned this May 31, 2024
@NagaComBio NagaComBio added the enhancement New feature or request label May 31, 2024
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Assignees

@NagaComBio NagaComBio

Labels
enhancement New feature or request
Projects
None yet
Milestone
No milestone
Development

When branches are created from issues, their pull requests are automatically linked.

vep_at_2.4.1 DKFZ-ODCF/IndelCallingWorkflow
1 participant
@NagaComBio