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feat(gks)!: add constraints and members to categorical variants#233

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korikuzma wants to merge 12 commits into
issue-217-add-oncofrom
issue-209
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feat(gks)!: add constraints and members to categorical variants#233
korikuzma wants to merge 12 commits into
issue-217-add-oncofrom
issue-209

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@korikuzma korikuzma commented Jun 5, 2026

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close #209

  • Migrate work from metakb (@jsstevenson helped write this code)
  • Adds Variation Normalizer REST Data Proxy to retrieve normalized VRS variations (only supports Allele and CopyNumberChange)
  • Require that Molecular Profiles represented as Categorical Variants use constraints
  • Add identifiers to mappings in Categorical Variant

@korikuzma korikuzma self-assigned this Jun 5, 2026

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Would love to eventually split out the current test_exports.py module

molecular_profile, expressions, variation_normalizer
)

super().__init__(

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Open question: Should we be returning the recipes, such as PSC, CategoricalCNV, etc? Or have downstream users validate these constraints?

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korikuzma changed the base branch from issue-217 to issue-217-add-onco June 24, 2026 14:28
close #209

* Migrate work from metakb (@jsstevenson helped write this code)
* Adds Variation Normalizer REST Data Proxy to retrieve normalized VRS variations (only supports Allele and CopyNumberChange)
* Require that Molecular Profiles represented as Categorical Variants use constraints

Co-authored-by: James Stevenson <james.stevenson@nationwidechildrens.org>
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korikuzma commented Jul 13, 2026

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ga4gh/va-spec#404

From @ahwagner

I like the extension-based approach, but VRS Alleles should only have expressions that define the exact variant; e.g. no c. for genomic variants, no g. for transcript variants, etc.

and

Change subjectVariant.extensions.expressions and revert to how CIViC represents it.

"HGVS Descriptions": list[str]
"MANE Select Transcript": list[str]

and ga4gh/va-spec#413 (comment)

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Forgot about ga4gh/va-spec#404 (comment)

@korikuzma korikuzma changed the title feat(gks)!: add constraints to categorical variants feat(gks)!: add constraints and members to categorical variants Jul 15, 2026
@korikuzma korikuzma linked an issue Jul 15, 2026 that may be closed by this pull request
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tag daniel on what output looks like

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GKS Exporter: Use Cat-VRS and VRS

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