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

Coding object in mappings is not being represented correctly #394

Open
korikuzma opened this issue Jan 16, 2025 · 0 comments · May be fixed by #395
Open

Coding object in mappings is not being represented correctly #394

korikuzma opened this issue Jan 16, 2025 · 0 comments · May be fixed by #395
Assignees
Labels
bug Something isn't working priority:high High priority

Comments

@korikuzma
Copy link
Member

korikuzma commented Jan 16, 2025

Describe the bug

I had met with Alex to review CIViC assertion representation using the latest GKS ballot releases. During this review, he noted we should be representing Coding objects in mappings differently than what is stated by the descriptions.

Steps to reproduce

Go to https://normalize.cancervariants.org/gene/normalize?q=BRAF and look at mappings

Expected behavior

  • code must use syntax defined by the system (e.g. HGNC:5)
  • system must use iriReference, not a free-text label
    • Priority for value used:
      1. systemPrefixExpansion: e.g. https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/
      2. specification
      3. homepage
  • id can be the concept_id (CURIE)

Current behavior

  • code is always using concept ID (CURIE)
  • system sometimes uses free-text label
  • No id field

Acceptance Criteria

Given I'm querying the /normalize endpoint,
When I'm accessing mappings,
Then code be the code syntax defined by the system, system should use iriReference, and id will be the concept_id

"coding": {
    "id": "hgnc:5",
    "system": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/",
    "code": "HGNC:5"
}

Possible reason(s)

No response

Suggested fix

No response

Branch, commit, and/or version

v0.6.0

Screenshots

No response

Environment details

NA

Additional details

No response

Contribution

Yes, I can create a PR for this fix.

@korikuzma korikuzma added bug Something isn't working priority:high High priority labels Jan 16, 2025
@korikuzma korikuzma self-assigned this Jan 16, 2025
@korikuzma korikuzma changed the title Coding.code is not always a CURIE Coding object in mappings is not being represented correctly Jan 16, 2025
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
bug Something isn't working priority:high High priority
Projects
None yet
Development

Successfully merging a pull request may close this issue.

1 participant