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

Write fusion requirements document #51

Closed
ahwagner opened this issue May 10, 2019 · 3 comments
Closed

Write fusion requirements document #51

ahwagner opened this issue May 10, 2019 · 3 comments
Assignees

Comments

@ahwagner
Copy link
Member

The goal for this issue is to write a single document with fusion use cases and a proposed model.

This should also serve as an introductory exercise for handling ambiguous representations of fusions (e.g. only one fusion partner specified or only gene names specified) alongside particular representations of fusions (defined transcript regions present / absent).

@reece
Copy link
Member

reece commented May 11, 2019

This is the same as #28, right? If so, please close this issue.

@ahwagner
Copy link
Member Author

This issue is about representing transcript and gene fusions specifically, motivated by the requirements of the ClinGen somatic working group. This is obviously an overlapping scope with #28, though there are some differences:

Translocations cause some fusions, but translocations themselves will have additional and distinct requirements that fusions will not, e.g. specifying genomic insertion coordinates and orientation.

Fusions will also have distinct rule-based considerations that don't fall under the scope of "translocations and junctions", e.g. one-partner rule-based variation descriptions.

However, I have no objection to merging this as a sub-issue of #28 if we want to keep tickets in this repo high level, especially as the notion of junctions are a necessary component for representing particular fusions. @reece I'll leave decision to merge to your discretion.

@reece
Copy link
Member

reece commented May 14, 2019

Okay. Closing so that all of the multi-location thinking is captured in one place.

@reece reece closed this as completed May 14, 2019
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Projects
None yet
Development

No branches or pull requests

2 participants