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

Add Manta support for structural variant prediction #181

Open
jonasscheid opened this issue Oct 18, 2022 · 2 comments
Open

Add Manta support for structural variant prediction #181

jonasscheid opened this issue Oct 18, 2022 · 2 comments
Assignees
Labels
enhancement New feature or request

Comments

@jonasscheid
Copy link
Contributor

Description of feature

The pipeline should also be able to predict putative Neo-epitopes based on structural variants (SV). Currently we only support SNVs and small indels. Predicting Neo-epitopes based on SV could reveal further therapy targets, e.g. deriving from gene-fusions. A common SV annotation tool is Manta

@jonasscheid jonasscheid added the enhancement New feature or request label Oct 18, 2022
@jonasscheid jonasscheid self-assigned this Oct 18, 2022
@christopher-mohr christopher-mohr added this to the 2.2.0 milestone Oct 18, 2022
@christopher-mohr christopher-mohr modified the milestones: 2.2.0, 2.3.0 Nov 11, 2022
@qbicStefanC
Copy link

qbicStefanC commented Jan 29, 2024

That feature would be indeed needed, especially for pre-clinical individualized trials we are involved into from time to time. I guess one could make use of additional evidence from RNA-Seq whether the fusion genes is indeed expressed, in order to confirm the importance of the variant.

@christopher-mohr
Copy link
Collaborator

christopher-mohr commented Jan 30, 2024

That feature would be indeed needed, especially for pre-clinical individualized trials we are involved into from time to time. I guess one could make use of additional evidence from RNA-Seq whether the fusion genes is indeed expressed, in order to confirm the importance of the variant.

Hi Stefan, I am not sure if Jonas had a closer look into this already. At the moment it is not entirely clear to me what would be needed to support this. On a high level I assume:

  • parsing functions for Manta-annotated variants
  • function(s) to incorporate structural variants accordingly

@jonasscheid jonasscheid removed this from the 2.3.0 milestone Feb 6, 2024
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
enhancement New feature or request
Projects
None yet
Development

No branches or pull requests

3 participants