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gks-tech sync prep: reorg core/va classes and get tests working (#217)
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* gks-tech sync prep: reorg core/va classes and get tests working
* changes from 2024-11-13 gks-tech sync review
* gks-tech-updates from 11-15-2024 mtg
* final change before 11/15/24 sync meeting
* DRY refactor SubjectVariant in propositions
* evidence code enum revision (#218)
* update oncogenicity proposition to current va-spec model (#219)
* init trial use coverage tests
* revise available attributes in base models
* bring test examples in line with schema changes
* add coverage exception config
---------
Co-authored-by: Alex H. Wagner, PhD <Alex.Wagner@nationwidechildrens.org>
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larrybabb authored Nov 19, 2024
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44 changes: 22 additions & 22 deletions docs/source/base-profiles/statement-profiles.rst
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.. _statement-profiles:

Statement Profiles
Proposition Profiles
!!!!!!!!!!!!!!!!!!

In the **GKS-Core-IM**, each discrete assertion of knowledge is captured in a self-contained ``Statement`` object which roots a :ref:`data structure <core-im-statement-data-structure>` supporting rich and flexible descriptions of the evidence and provenance supporting this knowledge.
In the **GKS-Core-IM**, each discrete assertion of knowledge is captured in a self-contained ``Proposition`` object which roots a :ref:`data structure <core-im-statement-data-structure>` supporting rich and flexible descriptions of the evidence and provenance supporting this knowledge.

**Statement Profiles** are defined as specializations of this Core-IM ``Statement`` class, to provide a concrete schema for representing a particular type of Variant knowledge (e.g. variant pathogenicity classifications).
**Proposition Profiles** are defined as specializations of this Core-IM ``Proposition`` class, to provide a concrete schema for representing a particular type of Variant knowledge (e.g. variant pathogenicity classifications).

The basic structure of Statement Profiles built on the Core-IM is illustrated below. The process used to specialize this structure for a specific Statement type is described in the :ref:`Profiling Methodology<profiling-methodology>`.
The basic structure of Proposition Profiles built on the Core-IM is illustrated below. The process used to specialize this structure for a specific Statement type is described in the :ref:`Profiling Methodology<profiling-methodology>`.

.. _statement-data-structure:

.. figure:: ../images/statement-data-structure.png

Statement Data Structure

**Legend** A view of the core data structure rooted by the Statement class, which can be leveraged in defining a Statement Profile. This view focuses on the most important and commonly used attributes and relationships in the model. Note that specific subtypes of InformtionEntity are listed at the bottom of this Class, but not shown for space. See Core-IM pags for these classes for details.
**Legend** A view of the core data structure rooted by the Statement class, which can be leveraged in defining a Proposition Profile. This view focuses on the most important and commonly used attributes and relationships in the model. Note that specific subtypes of InformtionEntity are listed at the bottom of this Class, but not shown for space. See Core-IM pags for these classes for details.
---------

Below are the **Standard Statement Profiles** currently defined as part of the VA-Spec, and available for adoption or extension by Driver Project implementations. **JSON Schema** for each Profile can be found `here <https://github.com/ga4gh/va-spec/tree/1.x/schema/profiles/json>`_.
Below are the **Standard Proposition Profiles** currently defined as part of the VA-Spec, and available for adoption or extension by Driver Project implementations. **JSON Schema** for each Profile can be found `here <https://github.com/ga4gh/va-spec/tree/1.x/schema/profiles/json>`_.

.. _variant-pathogenicity-statement-profile:
.. _variant-pathogenicity-proposition-profile:

Variant Pathogenicity Statement
###############################
Variant Pathogenicity Proposition
#################################

.. include:: ../def/va-spec/VariantPathogenicityStatement.rst
.. include:: ../def/va-spec/VariantPathogenicityProposition.rst

Variant Oncogenicity Study Statement
####################################
Variant Oncogenicity Study Proposition
######################################

.. include:: ../def/va-spec/VariantOncogenicityStudyStatement.rst
.. include:: ../def/va-spec/VariantOncogenicityStudyProposition.rst

Variant Therapeutic Response Study Statement
#############################################
Variant Therapeutic Response Study Proposition
##############################################

.. include:: ../def/va-spec/VariantTherapeuticResponseStudyStatement.rst
.. include:: ../def/va-spec/VariantTherapeuticResponseStudyProposition.rst

.. _variant-diagnostic-statement-profile:

Variant Diagnostic Study Statement
##################################
Variant Diagnostic Study Proposition
####################################

.. include:: ../def/va-spec/VariantDiagnosticStudyStatement.rst
.. include:: ../def/va-spec/VariantDiagnosticStudyProposition.rst

Variant Prognostic Study Statement
##################################
Variant Prognostic Study Proposition
####################################

.. include:: ../def/va-spec/VariantPrognosticStudyStatement.rst
.. include:: ../def/va-spec/VariantPrognosticStudyProposition.rst

8 changes: 4 additions & 4 deletions docs/source/base-profiles/study-result-profiles.rst
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Expand Up @@ -14,10 +14,10 @@ Cohort Allele Frequency Study Result
####################################


.. include:: ../../../schema/profiles/def/CohortAlleleFrequencyStudyResult.rst
.. include:: ../def/va-spec/CohortAlleleFrequencyStudyResult.rst


Assay Variant Effect Measurement Study Result
#############################################
Experimental Variant Functional Impact Study Result
###################################################

.. include:: ../../../schema/profiles/def/AssayVariantEffectMeasurementStudyResult.rst
.. include:: ../def/va-spec/ExperimentalVariantFunctionalImpactStudyResult.rst
16 changes: 8 additions & 8 deletions docs/source/core-information-model/data-types.rst
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Expand Up @@ -11,26 +11,26 @@ Complex Data Types
Coding
******

.. include:: ../../../schema/gks-core/def/Coding.rst
.. include:: ../def/gks-core/Coding.rst

.. _Extension:

Extension
*********
.. include:: ../../../schema/gks-core/def/Extension.rst
.. include:: ../def/gks-core/Extension.rst


.. _RecordMetadata:

RecordMetadata
**************

.. include:: ../../../schema/gks-core/def/RecordMetadata.rst
.. include:: ../def/va-spec/RecordMetadata.rst

ConceptMapping
**************

.. include:: ../../../schema/gks-core/def/ConceptMapping.rst
.. include:: ../def/gks-core/ConceptMapping.rst

Simple Data Types
###################
Expand All @@ -40,27 +40,27 @@ Simple Data Types
code
****

.. include:: ../../../schema/gks-core/def/code.rst
.. include:: ../def/gks-core/code.rst


.. _iriReference:

iriReference
************

.. include:: ../../../schema/gks-core/def/iriReference.rst
.. include:: ../def/gks-core/iriReference.rst

.. _date:

date
****

.. include:: ../../../schema/gks-core/def/date.rst
.. include:: ../def/gks-core/date.rst


.. _datetime:

datetime
********

.. include:: ../../../schema/gks-core/def/datetime.rst
.. include:: ../def/gks-core/datetime.rst
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Expand Up @@ -3,4 +3,4 @@
Contribution
!!!!!!!!!!!!

.. include:: ../../../../../schema/gks-core/def/Contribution.rst
.. include:: ../../../def/va-spec/Contribution.rst
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Expand Up @@ -3,7 +3,7 @@
Activity
!!!!!!!!

.. include:: ../../../../../schema/gks-core/def/Activity.rst
.. include:: ../../../def/va-spec/Activity.rst

Subclasses

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2 changes: 1 addition & 1 deletion docs/source/core-information-model/entities/agent.rst
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Expand Up @@ -3,4 +3,4 @@
Agent
!!!!!

.. include:: ../../../../schema/gks-core/def/Agent.rst
.. include:: ../../def/va-spec/Agent.rst
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Expand Up @@ -3,4 +3,4 @@
Characteristic
!!!!!!!!!!!!!!

.. include:: ../../../../schema/gks-core/def/Characteristic.rst
.. include:: ../../def/va-spec/Characteristic.rst
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Expand Up @@ -3,7 +3,7 @@
Condition
!!!!!!!!!

.. include:: ../../../../../../schema/domain-entities/def/Condition.rst
.. include:: ../../../../def/va-spec/Condition.rst


**Subclasses**
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Expand Up @@ -3,7 +3,7 @@
Trait Set
!!!!!!!!!

.. include:: ../../../../../../schema/domain-entities/def/TraitSet.rst
.. include:: ../../../../def/va-spec/TraitSet.rst



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Expand Up @@ -3,4 +3,4 @@
Gene
!!!!

.. include:: ../../../../../schema/domain-entities/def/Gene.rst
.. include:: ../../../def/va-spec/Gene.rst
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Expand Up @@ -3,8 +3,6 @@
Domain Entity
!!!!!!!!!!!!!

.. include:: ../../../../../schema/core-im/def/DomainEntity.rst

.. core-im-class-hierarchy:
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2 changes: 1 addition & 1 deletion docs/source/core-information-model/entities/index.rst
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Expand Up @@ -3,7 +3,7 @@
Entity
!!!!!!

.. include:: ../../../../schema/gks-core/def/Entity.rst
.. include:: ../../def/gks-core/Entity.rst


**Subclasses**
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Expand Up @@ -4,4 +4,4 @@ Data Set
!!!!!!!!


.. include:: ../../../../../schema/gks-core/def/DataSet.rst
.. include:: ../../../def/va-spec/DataSet.rst
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Expand Up @@ -4,4 +4,4 @@ Document
!!!!!!!!


.. include:: ../../../../../schema/gks-core/def/Document.rst
.. include:: ../../../def/va-spec/Document.rst
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Expand Up @@ -3,7 +3,7 @@
Evidence Line
!!!!!!!!!!!!!

.. include:: ../../../../../schema/gks-core/def/EvidenceLine.rst
.. include:: ../../../def/va-spec/EvidenceLine.rst

**IMPLEMENTATION GUIDANCE**

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Expand Up @@ -3,7 +3,7 @@
Information Entity
!!!!!!!!!!!!!!!!!!

.. include:: ../../../../../schema/gks-core/def/InformationEntity.rst
.. include:: ../../../def/va-spec/InformationEntity.rst

**Subclasses**

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Expand Up @@ -3,4 +3,4 @@
Method
!!!!!!

.. include:: ../../../../../schema/gks-core/def/Method.rst
.. include:: ../../../def/va-spec/Method.rst
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Expand Up @@ -4,7 +4,7 @@ Statement
!!!!!!!!!


.. include:: ../../../../../schema/gks-core/def/Statement.rst
.. include:: ../../../def/va-spec/Statement.rst

----------

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Expand Up @@ -3,7 +3,7 @@
Study Result
!!!!!!!!!!!!

.. include:: ../../../../../schema/gks-core/def/StudyResult.rst
.. include:: ../../../def/va-spec/StudyResult.rst

---------

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Expand Up @@ -3,4 +3,4 @@
Study Group
!!!!!!!!!!!

.. include:: ../../../../schema/gks-core/def/StudyGroup.rst
.. include:: ../../def/va-spec/StudyGroup.rst
10 changes: 2 additions & 8 deletions schema/Makefile
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@@ -1,6 +1,6 @@
all: base-all acmg-2015-all ave-2024-all aac-2017-all ccv-2022-all
all: base-all acmg-2015-all aac-2017-all ccv-2022-all

clean: base-clean acmg-2015-clean ave-2024-clean aac-2017-clean ccv-2022-clean
clean: base-clean acmg-2015-clean aac-2017-clean ccv-2022-clean

base-all:
(cd va-spec/base; make all)
Expand All @@ -14,12 +14,6 @@ acmg-2015-all:
acmg-2015-clean:
(cd va-spec/acmg-2015; make clean)

ave-2024-all:
(cd va-spec/ave-2024; make all)

ave-2024-clean:
(cd va-spec/ave-2024; make clean)

aac-2017-all:
(cd va-spec/aac-2017; make all)

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Expand Up @@ -4,7 +4,7 @@ title: AAC 2017 Variant Diagnostic Study Statement
strict: true

imports:
va-base: ../base/diagnostic-study-proposition-profile-source.yaml
va-spec: ../base/va-spec-source.yaml
gks-core: ../../gks-core/gks-core-source.yaml

$defs:
Expand All @@ -19,7 +19,7 @@ $defs:
- $ref: "/ga4gh/schema/gks-core/1.x/json/Statement"
- properties:
proposition:
$ref: "/ga4gh/schema/va-spec/1.x/base/json/VariantDiagnosticStudyProposition"
$ref: "/ga4gh/schema/va-spec/1.x/base/json/VariantDiagnosticProposition"
description: >-
The proposition for which the study provides evidence - that the subject variant
is associated with the object condition.
4 changes: 2 additions & 2 deletions schema/va-spec/aac-2017/json/VariantDiagnosticStudyStatement
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Expand Up @@ -6,12 +6,12 @@
"description": "A statement reporting a conclusion from a single study about whether a variant is associated with a disease (a diagnostic inclusion criterion), or absence of a disease (diagnostic exclusion criterion) - based on interpretation of the study's results.",
"allOf": [
{
"$ref": "/ga4gh/schema/gks-core/1.x/json/Statement"
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/Statement"
},
{
"properties": {
"proposition": {
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/VariantDiagnosticStudyProposition",
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/VariantDiagnosticProposition",
"description": "The proposition for which the study provides evidence - that the subject variant is associated with the object condition."
}
}
Expand Down
4 changes: 2 additions & 2 deletions schema/va-spec/aac-2017/json/VariantPrognosticStudyStatement
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Expand Up @@ -6,12 +6,12 @@
"description": "A statement reporting a conclusion from a single study about whether a variant is associated with a disease prognosis - based on interpretation of the study's results.",
"allOf": [
{
"$ref": "/ga4gh/schema/gks-core/1.x/json/Statement"
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/Statement"
},
{
"properties": {
"proposition": {
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/VariantPrognosticStudyProposition",
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/VariantPrognosticProposition",
"description": "The proposition for which the study provides evidence - that the subject variant is associated with the object condition."
}
}
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Expand Up @@ -6,12 +6,12 @@
"description": "A statement reporting a conclusion from a single study about whether a variant is associated with a therapeutic response (positive or negative) - based on interpretation of the study's results.",
"allOf": [
{
"$ref": "/ga4gh/schema/gks-core/1.x/json/Statement"
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/Statement"
},
{
"properties": {
"proposition": {
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/VariantTherapeuticResponseStudyProposition",
"$ref": "/ga4gh/schema/va-spec/1.x/base/json/VariantTherapeuticResponseProposition",
"description": "The proposition for which the study provides evidence - that the subject variant is associated with the object therapeutic response. "
}
}
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Expand Up @@ -4,7 +4,7 @@ title: AAC 2017 Variant Prognostic Study Statement
strict: true

imports:
va-base: ../base/prognostic-study-proposition-profile-source.yaml
va-spec: ../base/va-spec-source.yaml
gks-core: ../../gks-core/gks-core-source.yaml

$defs:
Expand All @@ -18,7 +18,7 @@ $defs:
- $ref: "/ga4gh/schema/gks-core/1.x/json/Statement"
- properties:
proposition:
$ref: "/ga4gh/schema/va-spec/1.x/base/json/VariantPrognosticStudyProposition"
$ref: "/ga4gh/schema/va-spec/1.x/base/json/VariantPrognosticProposition"
description: >-
The proposition for which the study provides evidence - that the subject variant
is associated with the object condition.
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