cancervariants / cancervariants/variation-normalization

If genomic query fails getting liftover/mane, try using original input to return a response

Open
#506 3 comments 0 reactions 0 assignees View on GitHub
enhancement priority:medium
Dominant language
Python
Stars
15
Forks
2
PR merge metrics
No merged PRs in 30d

Description

Similar to #505 but for genomic. It'd be like using the /to_vrs endpoint. We did something like this in the manuscript analysis and I think it makes sense to do this if we're doing it for protein/cDNA. @wesleygoar what do you think?

Contributor guide

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Research direction

Start by reading issue #505 and the genomic query path associated with the /to_vrs endpoint. Compare the existing protein/cDNA fallback behavior and the manuscript analysis reference, then determine how a liftover or MANE failure should return the original input. Done means the genomic query returns that fallback response consistently when normalization fails.

Written by the indexing model from the issue text.

Assessment

Tech stack
python
Domain
api, backend-api-design
Issue type
Feature
Difficulty
4/5
Estimated time
3-5 days
Activity status
Stale
Clarity
Mostly clear
Newbie friendliness
35/100

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