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Support NMD escape and triggering#351

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dglemos merged 2 commits intomainfrom
support_nmd_triggering
Mar 3, 2026
Merged

Support NMD escape and triggering#351
dglemos merged 2 commits intomainfrom
support_nmd_triggering

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@dglemos dglemos commented Feb 23, 2026

Description

In the current API to set a variant type with NMD_escaping we have to set the flag nmd_escape:

{
  "variant_types": [{
    "comment": "this is a comment",
    "de_novo": false,
    "inherited": true,
    "nmd_escape": false,
    "primary_type": "protein_changing",
    "secondary_type": "stop_gained",
    "supporting_papers": ["1"],
    "unknown_inheritance": true
  }]
}

This PR removes the flag nmd_escape.
The secondary_type should already include the full variant type: frameshift_variant_NMD_escaping, stop_gained_NMD_escaping, stop_gained_NMD_triggering, etc.

Important

This update requires a web update.


JIRA Ticket

G2P-698


Contributor Checklist

  • The code compiles and runs as expected
  • Relevant unit tests are added or updated
  • All unit tests are passing
  • Code follows the G2P Coding Guidelines
  • Documentation (code comments, confluence, etc.) has been updated as needed

Reviewer Checklist

Please follow the Code Review Guidelines when reviewing this PR.

  • I have followed all review guidelines

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@seeta-ramaraju seeta-ramaraju left a comment

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Tested with web changes EBI-G2P/gene2phenotype_web#203

@dglemos dglemos merged commit 624109a into main Mar 3, 2026
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@dglemos dglemos deleted the support_nmd_triggering branch March 3, 2026 13:19
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2 participants