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

[User Story] Merge VarDict and TNscope results #1480

Open
3 tasks
mathiasbio opened this issue Sep 24, 2024 · 0 comments · Fixed by #1475
Open
3 tasks

[User Story] Merge VarDict and TNscope results #1480

mathiasbio opened this issue Sep 24, 2024 · 0 comments · Fixed by #1475
Assignees
Labels
User-Story A User-Story describing new functionality
Milestone

Comments

@mathiasbio
Copy link
Collaborator

Need

As a clinician I want as many true variant calls as possible while avoiding false positives. VarDict has proven to be unreliable in both performance (crashing due to memory issues) and in terms of variant calling (#1396) and it was intended initially to replace it with TNscope for release 16 (#1428) however while this replacement showed improvements in all aspects of the validation criteria (#1429), while manually inspecting the unique calls from VarDict that were missing in TNscope there were evidences of inconsistencies in TNscope as well. Bug reports have been made to Sentieon regarding these issues.

Suggested approach

While waiting for TNscope issues to be resolved by Sentieon in upcoming releases, and perhaps adding additional SNV callers to replace VarDict, we can continue to use VarDict and try to shore up its weaknesses by adding TNscope.

Considered alternatives

Replace VarDict with TNscope, didn't feel safe to implement with current issues in TNscope.

Deviation

No response

System requirements assessed

  • Yes, I have reviewed the system requirements

Requirements affected by this story

No response

Risk assessment needed

  • Needed
  • Not needed

Risk assessment

No response

SOUPs

No response

Can be closed when

#1475

Blockers

No response

Anything else?

No response

@mathiasbio mathiasbio added the User-Story A User-Story describing new functionality label Sep 24, 2024
@github-project-automation github-project-automation bot moved this to Todo in BALSAMIC Sep 24, 2024
@mathiasbio mathiasbio self-assigned this Sep 24, 2024
@mathiasbio mathiasbio added this to the Release 16 milestone Sep 24, 2024
@mathiasbio mathiasbio linked a pull request Sep 24, 2024 that will close this issue
66 tasks
@mathiasbio mathiasbio moved this from Todo to Completed in BALSAMIC Oct 15, 2024
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
User-Story A User-Story describing new functionality
Projects
Status: Completed
Development

Successfully merging a pull request may close this issue.

1 participant