Variant ranking / prioritisation / ACMG auto-classification
- Dominant language
- Python
- Stars
- 30
- Forks
- 3
- Avg merge
- 9h 22m
- Merged PRs (30d)
- 40
Description
We have no way to prioritise variants within an analysis node. This would be good to reduce classification work on medical scientists.
ACMG classifications have 5 levels of clinical significance, but underneath that is a score from criteria weights - so I think using the score from an an ACMG classifier is also a variant prioritiser - hence moving all issues together here.
Personally, I'd much rather use an existing tool, though that may eg only work on default VEP fields, not all the information we have (though we could extend it)
Contributor guide
No contributing guide indexed for this repository
Research direction
Start at the analysis node and review the existing ACMG classification flow, including how classifier scores and default VEP fields are handled. Clarify whether to integrate an existing prioritisation tool or extend it for the available variant data; done means an agreed design and a working prioritisation path within an analysis node.
Written by the indexing model from the issue text.
Assessment
- Tech stack
- python
- Domain
- bioinformatics
- Issue type
- Feature
- Difficulty
- 5/5
- Estimated time
- Over a week
- Activity status
- Quiet
- Clarity
- Needs clarification
- Newbie friendliness
- 35/100