[GKS] Your Feedback Requested: Update in Molecular Consequence Schema

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Beatrice Amos

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Dec 3, 2025, 4:43:15 AM12/3/25
to GA4GH GKS Steering, Work Stream - Genomic Knowledge Standards (GKS), GA4GH Variation Representation, GA4GH Variant Annotation, Product - Categorical Variation Representation Specification (Cat-VRS)
Dear GKS implementers,

As part of the molecular consequence schema work, we're also proposing a very minor breaking change to the way we handle domain entities. Before, we used to independently define domain entity sets (e.g. ConditionSet and TherapyGroup). In our proposal, we've changed this to use a common class ConceptSet with restrictions on conceptType depending on where it's used. 
The breaking change is the rename of the properties therapies and conditions to concepts. We're hoping this change will reduce the maintenance burden to handle various domain entities (in terms of schema and implementer code).

We will have a 1-week review period (with more time available on request). Please leave your feedback on the PR!

Thank you,
Beatrice
On behalf of Mrinal Thomas, Epic


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