Add GeneDiseaseValidityProposition #406
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@@ -1001,6 +1001,39 @@ $defs: | |
| - objectTherapeutic | ||
| - conditionQualifier | ||
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| GeneDiseaseValidityProposition: | ||
| inherits: va-core:Proposition | ||
| maturity: draft | ||
| type: object | ||
| description: "A proposition that variants affecting a particular Gene are valid for evaluation as causal for some Condition using appropriate variant classification criteria, given a specific mode of inheritance." | ||
| properties: | ||
| type: | ||
| extends: type | ||
| const: GeneValidityProposition | ||
| default: GeneValidityProposition | ||
| subjectGene: | ||
| extends: subject | ||
| oneOf: | ||
| - $refCurie: gks.core:MappableConcept | ||
| - $refCurie: gks.core:iriReference | ||
| predicate: | ||
| extends: predicate | ||
| const: "variantsInGeneCausalFor" | ||
| default: "variantsInGeneCausalFor" | ||
| objectCondition: | ||
| extends: object | ||
| oneOf: | ||
| - $refCurie: gks.core:MappableConcept | ||
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larrybabb marked this conversation as resolved.
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| - $refCurie: gks.core:iriReference | ||
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larrybabb marked this conversation as resolved.
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| modeOfInheritanceQualifier: | ||
| oneOf: | ||
| - $refCurie: gks.core:MappableConcept | ||
| - $refCurie: gks.core:iriReference | ||
| required: | ||
| - predicate | ||
| - subjectGene | ||
| - objectCondition | ||
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Contributor
There was a problem hiding this comment. @tnavatar just double checking because I believe the GenCC requires MOI on their GDV classifications. Does the GCI or the ClinGen GDV SOP require MOI to be declared on every classification? The fallback is that some folks do put in the moi term "unknown" which I agree is a cop out. Just wondering if you considered this. |
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| CohortAlleleFrequencyStudyResult: | ||
| inherits: StudyResult | ||
| maturity: trial use | ||
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there's a fairly consistent convention to add a
descriptionparameter like soit feels kind of redundant to me but it's employed elsewhere in the schema