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Update propositions to TU (#229)
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* adjust qualifiers per #226

* add proposition tests

* var path to TU

* variant oncogenicity proposition to TU

* prognostic proposition to TU

* var diagnostic prop to TU

* therapeutic response prop to TU
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ahwagner authored Nov 26, 2024
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84 changes: 84 additions & 0 deletions schema/va-spec/base/def/ClinicalVariantProposition.rst
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@@ -0,0 +1,84 @@
.. note:: This data class is at a **trial use** maturity level and may \
change in future releases. Maturity \
levels are described in the :ref:`maturity-model`.

**Computational Definition**

A proposition for use in describing the effect of variants in human subjects.

**Information Model**

Some ClinicalVariantProposition attributes are inherited from :ref:`SubjectVariantProposition`.

.. list-table::
:class: clean-wrap
:header-rows: 1
:align: left
:widths: auto

* - Field
- Flags
- Type
- Limits
- Description
* - id
-
- string
- 0..1
- The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
* - type
-
- string
- 1..1
- The name of the class that is instantiated by a data object representing the Entity.
* - label
-
- string
- 0..1
- A primary name for the entity.
* - description
-
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
-
.. raw:: html

<span style="background-color: #B2DFEE; color: black; padding: 2px 6px; border: 1px solid black; border-radius: 3px; font-weight: bold; display: inline-block; margin-bottom: 5px;" title="Unordered">&#8942;</span>
- string
- 0..m
- Alternative name(s) for the Entity.
* - extensions
-
.. raw:: html

<span style="background-color: #B2DFEE; color: black; padding: 2px 6px; border: 1px solid black; border-radius: 3px; font-weight: bold; display: inline-block; margin-bottom: 5px;" title="Unordered">&#8942;</span>
- :ref:`Extension`
- 0..m
- A list of extensions to the Entity, that allow for capture of information not directly supported by elements defined in the model.
* - predicate
-
- string
- 1..1
- The relationship declared to hold between the subject and the object of the Statement.
* - object
-
- object
- 1..1
- An Entity or concept that is related to the subject of a Proposition via its predicate.
* - subjectVariant
-
- :ref:`MolecularVariation` | :ref:`CategoricalVariant` | :ref:`iriReference`
- 1..1
- A variant that is the subject of the Proposition.
* - geneContextQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports the gene through which the pathogenic effect asserted for the variant is mediated (i.e. it is the variant's impact on this gene that is responsible for causing the condition).
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports whether the statement should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or another more nuanced concept.
31 changes: 13 additions & 18 deletions schema/va-spec/base/def/VariantDiagnosticProposition.rst
Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
.. warning:: This data class is at a **draft** maturity level and may \
change significantly in future releases. Maturity \
.. note:: This data class is at a **trial use** maturity level and may \
change in future releases. Maturity \
levels are described in the :ref:`maturity-model`.

**Computational Definition**
Expand All @@ -8,7 +8,7 @@ A Proposition reporting a conclusion from a single study about whether a variant

**Information Model**

Some VariantDiagnosticProposition attributes are inherited from :ref:`SubjectVariantProposition`.
Some VariantDiagnosticProposition attributes are inherited from :ref:`ClinicalVariantProposition`.

.. list-table::
:class: clean-wrap
Expand Down Expand Up @@ -57,6 +57,16 @@ Some VariantDiagnosticProposition attributes are inherited from :ref:`SubjectVar
- :ref:`MolecularVariation` | :ref:`CategoricalVariant` | :ref:`iriReference`
- 1..1
- A variant that is the subject of the Proposition.
* - geneContextQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports the gene through which the pathogenic effect asserted for the variant is mediated (i.e. it is the variant's impact on this gene that is responsible for causing the condition).
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports whether the statement should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or another more nuanced concept.
* - type
-
- string
Expand All @@ -72,18 +82,3 @@ Some VariantDiagnosticProposition attributes are inherited from :ref:`SubjectVar
- :ref:`Condition` | :ref:`iriReference`
- 1..1
- The disease that is evaluated for diagnosis.
* - alleleOriginQualifier
-
- string
- 0..1
- Reports whether the proposition should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or both (combined).
* - allelePrevalenceQualifier
-
- string
- 0..1
- Reports whether the proposition should be interpreted in the context of the variant being rare or common.
* - geneContextQualifier
-
- :ref:`MappableConcept`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the diagnostic association in the Proposition.
31 changes: 13 additions & 18 deletions schema/va-spec/base/def/VariantOncogenicityProposition.rst
Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
.. warning:: This data class is at a **draft** maturity level and may \
change significantly in future releases. Maturity \
.. note:: This data class is at a **trial use** maturity level and may \
change in future releases. Maturity \
levels are described in the :ref:`maturity-model`.

**Computational Definition**
Expand All @@ -8,7 +8,7 @@ A proposition describing the role of a variant in causing a tumor type.

**Information Model**

Some VariantOncogenicityProposition attributes are inherited from :ref:`SubjectVariantProposition`.
Some VariantOncogenicityProposition attributes are inherited from :ref:`ClinicalVariantProposition`.

.. list-table::
:class: clean-wrap
Expand Down Expand Up @@ -57,6 +57,16 @@ Some VariantOncogenicityProposition attributes are inherited from :ref:`SubjectV
- :ref:`MolecularVariation` | :ref:`CategoricalVariant` | :ref:`iriReference`
- 1..1
- A variant that is the subject of the Proposition.
* - geneContextQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports the gene through which the pathogenic effect asserted for the variant is mediated (i.e. it is the variant's impact on this gene that is responsible for causing the condition).
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports whether the statement should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or another more nuanced concept.
* - type
-
- string
Expand All @@ -72,18 +82,3 @@ Some VariantOncogenicityProposition attributes are inherited from :ref:`SubjectV
- :ref:`Condition` | :ref:`iriReference`
- 1..1
- The tumor type for which the variant impact is evaluated.
* - variantOriginQualifier
-
- string
- 0..1
- Reports whether the proposition should be interpreted in the context of a heritable (germline) variant, an acquired (somatic) mutation, or more nuanced origin.
* - variantPrevalenceQualifier
-
- string
- 0..1
- Reports whether the proposition should be interpreted in the context of the variant being rare, common, or some other expressed form of background population prevalence.
* - geneContextQualifier
-
- :ref:`MappableConcept`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the oncogenic role in the Proposition.
30 changes: 16 additions & 14 deletions schema/va-spec/base/def/VariantPathogenicityProposition.rst
Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
.. warning:: This data class is at a **draft** maturity level and may \
change significantly in future releases. Maturity \
.. note:: This data class is at a **trial use** maturity level and may \
change in future releases. Maturity \
levels are described in the :ref:`maturity-model`.

**Computational Definition**
Expand All @@ -8,7 +8,7 @@ A proposition describing the role of a variant in causing a heritable condition.

**Information Model**

Some VariantPathogenicityProposition attributes are inherited from :ref:`SubjectVariantProposition`.
Some VariantPathogenicityProposition attributes are inherited from :ref:`ClinicalVariantProposition`.

.. list-table::
:class: clean-wrap
Expand Down Expand Up @@ -57,6 +57,16 @@ Some VariantPathogenicityProposition attributes are inherited from :ref:`Subject
- :ref:`MolecularVariation` | :ref:`CategoricalVariant` | :ref:`iriReference`
- 1..1
- A variant that is the subject of the Proposition.
* - geneContextQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports the gene through which the pathogenic effect asserted for the variant is mediated (i.e. it is the variant's impact on this gene that is responsible for causing the condition).
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports whether the statement should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or another more nuanced concept.
* - type
-
- string
Expand All @@ -74,19 +84,11 @@ Some VariantPathogenicityProposition attributes are inherited from :ref:`Subject
- The :ref:`Condition` for which the variant impact is stated.
* - penetranceQualifier
-
- string
- :ref:`MappableConcept`
- 0..1
- Reports the penetrance of the pathogenic effect - i.e. the extent to which the variant impact is expressed by individuals carrying it as a measure of the proportion of carriers exhibiting the condition.
* - modeOfInheritanceQualifier
-
.. raw:: html

<span style="background-color: #B2DFEE; color: black; padding: 2px 6px; border: 1px solid black; border-radius: 3px; font-weight: bold; display: inline-block; margin-bottom: 5px;" title="Unordered">&#8942;</span>
- :ref:`Coding`
- 0..m
- Reports a pattern of inheritance expected for the pathogenic effect of the variant. Use HPO terms within the hierarchy of 'HP:0000005' (mode of inheritance) to specify.
* - geneContextQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- :ref:`MappableConcept`
- 0..1
- Reports the gene through which the pathogenic effect asserted for the variant is mediated (i.e. it is the variant's impact on this gene that is responsible for causing the condition).
- Reports a pattern of inheritance expected for the pathogenic effect of the variant. HPO terms within the hierarchy of 'HP:0000005' (mode of inheritance) are recommended to specify.
31 changes: 13 additions & 18 deletions schema/va-spec/base/def/VariantPrognosticProposition.rst
Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
.. warning:: This data class is at a **draft** maturity level and may \
change significantly in future releases. Maturity \
.. note:: This data class is at a **trial use** maturity level and may \
change in future releases. Maturity \
levels are described in the :ref:`maturity-model`.

**Computational Definition**
Expand All @@ -8,7 +8,7 @@ A Proposition reporting a conclusion from a single study about whether a variant

**Information Model**

Some VariantPrognosticProposition attributes are inherited from :ref:`SubjectVariantProposition`.
Some VariantPrognosticProposition attributes are inherited from :ref:`ClinicalVariantProposition`.

.. list-table::
:class: clean-wrap
Expand Down Expand Up @@ -57,6 +57,16 @@ Some VariantPrognosticProposition attributes are inherited from :ref:`SubjectVar
- :ref:`MolecularVariation` | :ref:`CategoricalVariant` | :ref:`iriReference`
- 1..1
- A variant that is the subject of the Proposition.
* - geneContextQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports the gene through which the pathogenic effect asserted for the variant is mediated (i.e. it is the variant's impact on this gene that is responsible for causing the condition).
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports whether the statement should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or another more nuanced concept.
* - type
-
- string
Expand All @@ -72,18 +82,3 @@ Some VariantPrognosticProposition attributes are inherited from :ref:`SubjectVar
- :ref:`Condition` | :ref:`iriReference`
- 1..1
- The disease that is evaluated for outcome.
* - alleleOriginQualifier
-
- string
- 0..1
- Reports whether the proposition should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or both (combined).
* - allelePrevalenceQualifier
-
- string
- 0..1
- Reports whether the proposition should be interpreted in the context of the variant being rare or common.
* - geneContextQualifier
-
- :ref:`MappableConcept`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the prognostic association in the Proposition.
32 changes: 13 additions & 19 deletions schema/va-spec/base/def/VariantTherapeuticResponseProposition.rst
Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
.. warning:: This data class is at a **draft** maturity level and may \
change significantly in future releases. Maturity \
.. note:: This data class is at a **trial use** maturity level and may \
change in future releases. Maturity \
levels are described in the :ref:`maturity-model`.

**Computational Definition**
Expand All @@ -8,7 +8,7 @@ A Statement reporting a conclusion from a single study about the role of a varia

**Information Model**

Some VariantTherapeuticResponseProposition attributes are inherited from :ref:`SubjectVariantProposition`.
Some VariantTherapeuticResponseProposition attributes are inherited from :ref:`ClinicalVariantProposition`.

.. list-table::
:class: clean-wrap
Expand Down Expand Up @@ -57,6 +57,16 @@ Some VariantTherapeuticResponseProposition attributes are inherited from :ref:`S
- :ref:`MolecularVariation` | :ref:`CategoricalVariant` | :ref:`iriReference`
- 1..1
- A variant that is the subject of the Proposition.
* - geneContextQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports the gene through which the pathogenic effect asserted for the variant is mediated (i.e. it is the variant's impact on this gene that is responsible for causing the condition).
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports whether the statement should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or another more nuanced concept.
* - type
-
- string
Expand All @@ -77,19 +87,3 @@ Some VariantTherapeuticResponseProposition attributes are inherited from :ref:`S
- :ref:`Condition` | :ref:`iriReference`
- 1..1
- Reports the disease context in which the variant's association with therapeutic sensitivity or resistance is evaluated. Note that this is a required qualifier in therapeutic response statements.
* - alleleOriginQualifier
-
- string
- 0..1
- Reports whether the statement should be interpreted in the context of an inherited (germline) variant, an acquired (somatic) mutation, or both (combined).
* - allelePrevalenceQualifier
-
- string
- 0..1
- Reports whether the statement should be interpreted in the context of the variant being rare or common.
* - geneContextQualifier
-
- :ref:`MappableConcept`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the therapeutic sensitivity or resistance reported in the Statement.

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