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fix: remove StudyResult from EvidenceLine.hasEvidenceItems and re-r…
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…un make all
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korikuzma committed Feb 19, 2025
1 parent 4866c79 commit 268a527
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Showing 20 changed files with 67 additions and 71 deletions.
2 changes: 1 addition & 1 deletion schema/va-spec/base/def/ClinicalVariantProposition.rst
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Expand Up @@ -76,7 +76,7 @@ Some ClinicalVariantProposition attributes are inherited from :ref:`SubjectVaria
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
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2 changes: 1 addition & 1 deletion schema/va-spec/base/def/EvidenceLine.rst
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Expand Up @@ -88,7 +88,7 @@ Some EvidenceLine attributes are inherited from :ref:`InformationEntity`.
.. 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:`StudyResult` | :ref:`Statement` | :ref:`EvidenceLine` | :ref:`iriReference`
- :ref:`Statement` | :ref:`EvidenceLine` | :ref:`iriReference`
- 0..m
- An individual piece of information that was evaluated as evidence in building the argument represented by an Evidence Line.
* - directionOfEvidenceProvided
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Expand Up @@ -71,9 +71,9 @@ Some ExperimentalVariantFunctionalImpactProposition attributes are inherited fro
-
- :ref:`iriReference` | :ref:`MappableConcept`
- 1..1
- The sequence feature (typically a gene or gene product) on whose function the impact of the subject variant is reported.
- The sequence feature (typically a gene or gene product) on whose function the impact of the subject variant is reported.
* - experimentalContextQualifier
-
- :ref:`iriReference` | :ref:`Document` | object
- 0..1
- An assay in which the reported variant functional impact was determined - providing a specific experimental context in which this effect is asserted to hold.
- An assay in which the reported variant functional impact was determined - providing a specific experimental context in which this effect is asserted to hold.
4 changes: 2 additions & 2 deletions schema/va-spec/base/def/Statement.rst
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Expand Up @@ -82,7 +82,7 @@ Some Statement attributes are inherited from :ref:`InformationEntity`.
-
- :ref:`Proposition`
- 1..1
- A possible fact, the validity of which is assessed and reported by the Statement. A Statement can put forth the proposition as being true, false, or uncertain, and may provide an assessment of the level of confidence/evidence supporting this claim.
- A possible fact, the validity of which is assessed and reported by the Statement. A Statement can put forth the proposition as being true, false, or uncertain, and may provide an assessment of the level of confidence/evidence supporting this claim.
* - direction
-
- string
Expand All @@ -100,7 +100,7 @@ Some Statement attributes are inherited from :ref:`InformationEntity`.
<span style="background-color: #D3D3D3; color: black; padding: 2px 6px; border: 1px solid black; border-radius: 3px; font-weight: bold; display: inline-block; margin-bottom: 5px;" title="Draft Maturity Level">D</span>
- number
- 0..1
- A quantitative score that indicates the strength of a Proposition's assessment in the direction indicated (i.e. how strongly supported or disputed the Proposition is believed to be). Depending on its implementation, a score may reflect how *confident* that agent is that the Proposition is true or false, or the *strength of evidence* they believe supports or disputes it. Instructions for how to interpret the menaing of a given score may be gleaned from the method or document referenced in 'specifiedBy' attribute.
- A quantitative score that indicates the strength of a Proposition's assessment in the direction indicated (i.e. how strongly supported or disputed the Proposition is believed to be). Depending on its implementation, a score may reflect how *confident* that agent is that the Proposition is true or false, or the *strength of evidence* they believe supports or disputes it. Instructions for how to interpret the menaing of a given score may be gleaned from the method or document referenced in 'specifiedBy' attribute.
* - classification
-
- :ref:`MappableConcept`
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2 changes: 1 addition & 1 deletion schema/va-spec/base/def/VariantDiagnosticProposition.rst
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Expand Up @@ -61,7 +61,7 @@ Some VariantDiagnosticProposition attributes are inherited from :ref:`ClinicalVa
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
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2 changes: 1 addition & 1 deletion schema/va-spec/base/def/VariantOncogenicityProposition.rst
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Expand Up @@ -61,7 +61,7 @@ Some VariantOncogenicityProposition attributes are inherited from :ref:`Clinical
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
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4 changes: 2 additions & 2 deletions schema/va-spec/base/def/VariantPathogenicityProposition.rst
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Expand Up @@ -61,7 +61,7 @@ Some VariantPathogenicityProposition attributes are inherited from :ref:`Clinica
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
Expand All @@ -86,7 +86,7 @@ Some VariantPathogenicityProposition attributes are inherited from :ref:`Clinica
-
- :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.
- 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
-
- :ref:`MappableConcept`
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2 changes: 1 addition & 1 deletion schema/va-spec/base/def/VariantPrognosticProposition.rst
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Expand Up @@ -61,7 +61,7 @@ Some VariantPrognosticProposition attributes are inherited from :ref:`ClinicalVa
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
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Expand Up @@ -61,7 +61,7 @@ Some VariantTherapeuticResponseProposition attributes are inherited from :ref:`C
-
- :ref:`MappableConcept` | :ref:`iriReference`
- 0..1
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
- Reports a gene impacted by the variant, which may contribute to the association described in the Proposition.
* - alleleOriginQualifier
-
- :ref:`MappableConcept` | :ref:`iriReference`
Expand All @@ -86,4 +86,4 @@ Some VariantTherapeuticResponseProposition attributes are inherited from :ref:`C
-
- :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 propositions.
- 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 propositions.
2 changes: 1 addition & 1 deletion schema/va-spec/base/json/CohortAlleleFrequencyStudyResult
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Expand Up @@ -46,7 +46,7 @@
}
],
"description": "A specification that describes all or part of the process that led to creation of the Information Entity",
"$comment": "Examples: a specific experimental protocol or data analysis specification that describes how data were generated; an evidence interpretation guideline that describes steps taken to interpret data in making a variant pathogenicity classification; a method for using electron microscopy to image cell membrane proteins. Note that this attribute captures a specific *instance* of a specification or method (e.g. the specific electron microscopy method described in https://doi.org/10.1002/cpz1.1045) - as opposed to reporting a *type* of method applied (e.g. 'Transmission Electron Microscopy')."
"$comment": "Examples: a specific experimental protocol or data analysis specification that describes how data were generated; an evidence interpretation guideline that describes steps taken to interpret data in making a variant pathogenicity classification; a method for using electron microscopy to image cell membrane proteins. Note that this attribute captures a specific *instance* of a specification or method (e.g. the specific electron microscopy method described in https://doi.org/10.1002/cpz1.1045) - as opposed to reporting a *type* of method applied (e.g. 'Transmission Electron Microscopy')."
},
"contributions": {
"type": "array",
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5 changes: 1 addition & 4 deletions schema/va-spec/base/json/EvidenceLine
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Expand Up @@ -47,7 +47,7 @@
}
],
"description": "A specification that describes all or part of the process that led to creation of the Information Entity",
"$comment": "Examples: a specific experimental protocol or data analysis specification that describes how data were generated; an evidence interpretation guideline that describes steps taken to interpret data in making a variant pathogenicity classification; a method for using electron microscopy to image cell membrane proteins. Note that this attribute captures a specific *instance* of a specification or method (e.g. the specific electron microscopy method described in https://doi.org/10.1002/cpz1.1045) - as opposed to reporting a *type* of method applied (e.g. 'Transmission Electron Microscopy')."
"$comment": "Examples: a specific experimental protocol or data analysis specification that describes how data were generated; an evidence interpretation guideline that describes steps taken to interpret data in making a variant pathogenicity classification; a method for using electron microscopy to image cell membrane proteins. Note that this attribute captures a specific *instance* of a specification or method (e.g. the specific electron microscopy method described in https://doi.org/10.1002/cpz1.1045) - as opposed to reporting a *type* of method applied (e.g. 'Transmission Electron Microscopy')."
},
"contributions": {
"type": "array",
Expand Down Expand Up @@ -108,9 +108,6 @@
"ordered": false,
"items": {
"anyOf": [
{
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/StudyResult"
},
{
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/Statement"
},
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Expand Up @@ -49,7 +49,7 @@
}
],
"description": "A variant that is the subject of the Proposition.",
"$comment": "In profiles for most VA-Spec implementations, the subject will be a some type of genetic variation. However, the Core VA model is domain-agnostic, and supports Propositions about any type of Entity. Some data providers may want to make statements about other entities or concepts that represent evidence for a Propositions about genetic variation (e.g. a statement that a gene is valid for some disease is one type of evidence that may support the pathogenicity of a variant that affects that gene)."
"$comment": "In profiles for most VA-Spec implementations, the subject will be a some type of genetic variation. However, the Core VA model is domain-agnostic, and supports Propositions about any type of Entity. Some data providers may want to make statements about other entities or concepts that represent evidence for a Propositions about genetic variation (e.g. a statement that a gene is valid for some disease is one type of evidence that may support the pathogenicity of a variant that affects that gene)."
},
"type": {
"type": "string",
Expand All @@ -73,11 +73,11 @@
"$ref": "/ga4gh/schema/gks-core/1.x/json/iriReference"
}
],
"description": "The sequence feature (typically a gene or gene product) on whose function the impact of the subject variant is reported.",
"description": "The sequence feature (typically a gene or gene product) on whose function the impact of the subject variant is reported.",
"$comment": "The object of a Proposition can be any Entity or concept that is related to the subject. When the subject is a genetic variation, the object is often a disease, phenotype, therapeutic intervention, or gene."
},
"experimentalContextQualifier": {
"description": "An assay in which the reported variant functional impact was determined - providing a specific experimental context in which this effect is asserted to hold.",
"description": "An assay in which the reported variant functional impact was determined - providing a specific experimental context in which this effect is asserted to hold.",
"anyOf": [
{
"$ref": "/ga4gh/schema/gks-core/1.x/json/iriReference"
Expand All @@ -88,7 +88,7 @@
{
"type": "object",
"additionalProperties": true,
"$comment": "It is expected that non-Document objects will conform to externally-maintained community schemas for representing experimental context data."
"$comment": "It is expected that non-Document objects will conform to externally-maintained community schemas for representing experimental context data."
}
]
}
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Expand Up @@ -93,7 +93,7 @@
}
],
"description": "The assay that was performed to generate the reported functional impact score.",
"$comment": "Examples: a specific experimental protocol or data analysis specification that describes how data were generated; an evidence interpretation guideline that describes steps taken to interpret data in making a variant pathogenicity classification; a method for using electron microscopy to image cell membrane proteins. Note that this attribute captures a specific *instance* of a specification or method (e.g. the specific electron microscopy method described in https://doi.org/10.1002/cpz1.1045) - as opposed to reporting a *type* of method applied (e.g. 'Transmission Electron Microscopy')."
"$comment": "Examples: a specific experimental protocol or data analysis specification that describes how data were generated; an evidence interpretation guideline that describes steps taken to interpret data in making a variant pathogenicity classification; a method for using electron microscopy to image cell membrane proteins. Note that this attribute captures a specific *instance* of a specification or method (e.g. the specific electron microscopy method described in https://doi.org/10.1002/cpz1.1045) - as opposed to reporting a *type* of method applied (e.g. 'Transmission Electron Microscopy')."
},
"sourceDataSet": {
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/DataSet",
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