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

Implement ClinVar Uploads #99

Closed
holtgrewe opened this issue Oct 2, 2023 · 2 comments · Fixed by #270
Closed

Implement ClinVar Uploads #99

holtgrewe opened this issue Oct 2, 2023 · 2 comments · Fixed by #270
Assignees
Labels
enhancement New feature or request
Milestone

Comments

@holtgrewe
Copy link
Member

holtgrewe commented Oct 2, 2023

Is your feature request related to a problem? Please describe.
ClinVar uploads would be a nice feature for REEV.

Describe the solution you'd like
Implement clinvar uploads of sequence and structural variants using clinvar-this.

  • Based on saved ACMG ratings, allow users to trigger uploads.
  • Users must be able to save ClinVar upload tokens and possibly NCBI tokens for querying.
  • Add appropriate models / schemas / API endpoints to backend. We probably only want to save the messages sent/received and display accordingly.
  • Integrate with frontend.

Describe alternatives you've considered
N/A

Additional context

@holtgrewe holtgrewe added the enhancement New feature or request label Oct 2, 2023
@gromdimon gromdimon modified the milestones: 1.0.0, 0.3.0 Oct 2, 2023
@holtgrewe
Copy link
Member Author

Based on clinvar-this, the user should be able to annotate the following.

  • assertion criteria: pubmed ID, 25741868 for ACMG 2015, or URL
    • condition_set: of OMIM, HP, empty list => "not provided"
    • observed_in:
      • clinical_features: HPO phenotypes with absent/present
      • clinical_features_comment: free-text
      • allele_origin: always germline
      • number_of_individuals: optional int
      • struct_var_method_type: optional enum value
    • record_status: novel OR update AND
    • clinvar_accession: SCV identifier
    • local_key: optional ID
    • variant_set:
      • variant:
        • chromosome_coordinates
        • "copy_number": null,
        • "gene": null,
        • "hgvs": null,
        • "reference_copy_number": null,
        • "variant_type": null
  • only submission as public is supported at the moment

holtgrewe added a commit that referenced this issue Dec 11, 2023
@holtgrewe holtgrewe linked a pull request Dec 11, 2023 that will close this issue
holtgrewe added a commit that referenced this issue Dec 13, 2023
@holtgrewe
Copy link
Member Author

Submission transcript with failure:

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
enhancement New feature or request
Projects
None yet
Development

Successfully merging a pull request may close this issue.

2 participants