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update MSP / submodule
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larrybabb committed Sep 8, 2024
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2 changes: 1 addition & 1 deletion .requirements.txt
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Expand Up @@ -2,6 +2,6 @@ pytest
sphinx ~= 7.2
sphinx-rtd-theme ~= 1.2
pyyaml
ga4gh.gks.metaschema==0.3.0b11
ga4gh.gks.metaschema==0.3.0b12
jsonschema
referencing
16 changes: 9 additions & 7 deletions schema/cat-vrs/cat-vrs-source.yaml
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Expand Up @@ -20,6 +20,7 @@ $defs:

CategoricalVariation:
inherits: gks.core-im:DomainEntity
maturity: draft
description: >-
A representation of a categorically-defined domain for variation, in which individual
contextual variation instances may be members of the domain.
Expand All @@ -41,9 +42,9 @@ $defs:
- $ref: "/ga4gh/schema/gks-common/1.x/data-types/json/IRI"

ProteinSequenceConsequence:
maturity: draft
type: object
inherits: CategoricalVariation
maturity: draft
description: >-
A change that occurs in a protein sequence as a result of genomic changes. Due to the degenerate nature
of the genetic code, there are often several genomic changes that can cause a protein sequence consequence.
Expand All @@ -68,8 +69,8 @@ $defs:
- definingContext

CanonicalAllele:
maturity: draft
inherits: CategoricalVariation
maturity: draft
description: >-
A canonical allele is defined by an `Allele <https://vrs.ga4gh.org/en/2.0/terms_and_model.html#variation>`
that is representative of a collection of congruent Alleles, each of which depict the same nucleic acid
Expand All @@ -93,9 +94,9 @@ $defs:
- definingContext

CategoricalCnv:
maturity: draft
type: object
inherits: CategoricalVariation
maturity: draft
description: >-
A categorical variation domain is defined first by a sequence derived from a canonical `Location
<https://vrs.ga4gh.org/en/2.0/terms_and_model.html#Location>`_ , which is representative of
Expand Down Expand Up @@ -145,9 +146,9 @@ $defs:
- location

DescribedVariation:
maturity: draft
type: object
inherits: CategoricalVariation
maturity: draft
description: >-
Some categorical variation concepts are supported by custom nomenclatures or text-descriptive
representations for which a categorical variation model does not exist. DescribedVariation is
Expand Down Expand Up @@ -221,12 +222,12 @@ $defs:


NumberCount:
maturity: draft
# ga4ghDigest:
# keys:
# - numberCount
type: object
# inherits: QuantityVariance
maturity: draft
description: >-
The absolute count of a discrete assayable unit (e.g. chromosome, gene, or sequence).
properties:
Expand All @@ -246,12 +247,12 @@ $defs:


NumberChange:
maturity: draft
# ga4ghDigest:
# keys:
# - numberChange
# prefix: CX
type: object
maturity: draft
description: >-
A quantitative assessment of a unit within a system (e.g. genome, cell,
etc.) relative to a baseline quantity.
Expand All @@ -278,9 +279,9 @@ $defs:
required: [ "change" ]

QuantityVariance:
maturity: draft
type: object
# inherits: NumberCount
maturity: draft
description: >-
The Quantity Variance class captures one axis of variation in the generalized model of categorical
variation. It is used to model quantitative measure changes in a given biological level of
Expand Down Expand Up @@ -340,6 +341,7 @@ $defs:

CategoricalVariant:
inherits: gks.core-im:DomainEntity
maturity: draft
description: >-
A top-level representation of a categorically-defined domain for variation across one or multiple biological levels in which individual contextual variants may be members of the domain.
# type: object
Expand Down
8 changes: 4 additions & 4 deletions schema/cat-vrs/def/CanonicalAllele.rst
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Expand Up @@ -33,22 +33,22 @@ Some CanonicalAllele attributes are inherited from :ref:`CategoricalVariation`.
- 0..m
- Alternative name(s) for the Entity.
* - extensions
- `Extension </ga4gh/schema/gks-common/1.x/data-types/json/Extension>`_
- :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.
* - mappings
- `ConceptMapping </ga4gh/schema/gks-common/1.x/data-types/json/ConceptMapping>`_
- :ref:`ConceptMapping`
- 0..m
- A list of mappings to concepts in terminologies or code systems. Each mapping should include a coding and a relation.
* - members
- `Variation </ga4gh/schema/vrs/2.x/json/Variation>`_ | `IRI </ga4gh/schema/gks-common/1.x/data-types/json/IRI>`_
- :ref:`Variation` | :ref:`IRI`
- 0..m
- A non-exhaustive list of VRS variation contexts that satisfy the constraints of this categorical variant.
* - type
- string
- 1..1
- MUST be "CanonicalAllele"
* - definingContext
- `Allele </ga4gh/schema/vrs/2.x/json/Allele>`_ | `IRI </ga4gh/schema/gks-common/1.x/data-types/json/IRI>`_
- :ref:`Allele` | :ref:`IRI`
- 1..1
- The `VRS Allele <https://vrs.ga4gh.org/en/2.0/terms_and_model.html#allele>`_ object that is congruent with variants on alternate reference sequences.
10 changes: 5 additions & 5 deletions schema/cat-vrs/def/CategoricalCnv.rst
Original file line number Diff line number Diff line change
Expand Up @@ -33,23 +33,23 @@ Some CategoricalCnv attributes are inherited from :ref:`CategoricalVariation`.
- 0..m
- Alternative name(s) for the Entity.
* - extensions
- `Extension </ga4gh/schema/gks-common/1.x/data-types/json/Extension>`_
- :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.
* - mappings
- `ConceptMapping </ga4gh/schema/gks-common/1.x/data-types/json/ConceptMapping>`_
- :ref:`ConceptMapping`
- 0..m
- A list of mappings to concepts in terminologies or code systems. Each mapping should include a coding and a relation.
* - members
- `Variation </ga4gh/schema/vrs/2.x/json/Variation>`_ | `IRI </ga4gh/schema/gks-common/1.x/data-types/json/IRI>`_
- :ref:`Variation` | :ref:`IRI`
- 0..m
- A non-exhaustive list of VRS variation contexts that satisfy the constraints of this categorical variant.
* - type
- string
- 1..1
- MUST be "CategoricalCnv"
* - location
- `SequenceLocation </ga4gh/schema/vrs/2.x/json/SequenceLocation>`_ | `IRI </ga4gh/schema/gks-common/1.x/data-types/json/IRI>`_
- :ref:`SequenceLocation` | :ref:`IRI`
- 1..1
- A `VRS Location <https://vrs.ga4gh.org/en/2.x/concepts/location/SequenceLocation.html>`_ object that represents a sequence derived from that location, and is congruent with locations on alternate reference sequences.
* - locationMatchCharacteristic
Expand All @@ -61,6 +61,6 @@ Some CategoricalCnv attributes are inherited from :ref:`CategoricalVariation`.
- 0..1
- A representation of the change in copies of a sequence in a system. MUST be one of "EFO:0030069" (complete genomic loss), "EFO:0020073" (high-level loss), "EFO:0030068" (low-level loss), "EFO:0030067" (loss), "EFO:0030064" (regional base ploidy), "EFO:0030070" (gain), "EFO:0030071" (low-level gain), "EFO:0030072" (high-level gain).
* - copies
- integer | `Range </ga4gh/schema/vrs/2.x/json/Range>`_
- integer | :ref:`Range`
- 0..1
- The integral number of copies of the subject in a system.
6 changes: 3 additions & 3 deletions schema/cat-vrs/def/CategoricalVariation.rst
Original file line number Diff line number Diff line change
Expand Up @@ -37,14 +37,14 @@ Some CategoricalVariation attributes are inherited from :ref:`gks.core-im:Domain
- 0..m
- Alternative name(s) for the Entity.
* - extensions
- `Extension </ga4gh/schema/gks-common/1.x/data-types/json/Extension>`_
- :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.
* - mappings
- `ConceptMapping </ga4gh/schema/gks-common/1.x/data-types/json/ConceptMapping>`_
- :ref:`ConceptMapping`
- 0..m
- A list of mappings to concepts in terminologies or code systems. Each mapping should include a coding and a relation.
* - members
- `Variation </ga4gh/schema/vrs/2.x/json/Variation>`_ | `IRI </ga4gh/schema/gks-common/1.x/data-types/json/IRI>`_
- :ref:`Variation` | :ref:`IRI`
- 0..m
- A non-exhaustive list of VRS variation contexts that satisfy the constraints of this categorical variant.
6 changes: 3 additions & 3 deletions schema/cat-vrs/def/DescribedVariation.rst
Original file line number Diff line number Diff line change
Expand Up @@ -25,15 +25,15 @@ Some DescribedVariation attributes are inherited from :ref:`CategoricalVariation
- 0..m
- Alternative name(s) for the Entity.
* - extensions
- `Extension </ga4gh/schema/gks-common/1.x/data-types/json/Extension>`_
- :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.
* - mappings
- `ConceptMapping </ga4gh/schema/gks-common/1.x/data-types/json/ConceptMapping>`_
- :ref:`ConceptMapping`
- 0..m
- A list of mappings to concepts in terminologies or code systems. Each mapping should include a coding and a relation.
* - members
- `Variation </ga4gh/schema/vrs/2.x/json/Variation>`_ | `IRI </ga4gh/schema/gks-common/1.x/data-types/json/IRI>`_
- :ref:`Variation` | :ref:`IRI`
- 0..m
- A non-exhaustive list of VRS variation contexts that satisfy the constraints of this categorical variant.
* - type
Expand Down
2 changes: 1 addition & 1 deletion schema/cat-vrs/def/NumberChange.rst
Original file line number Diff line number Diff line change
Expand Up @@ -20,6 +20,6 @@ A quantitative assessment of a unit within a system (e.g. genome, cell, etc.) re
- 0..1
- MUST be "NumberChange"
* - change
- integer | `Range </ga4gh/schema/vrs/2.x/json/Range>`_ | string
- integer | :ref:`Range` | string
- 0..1
- a quantitative or qualitative value of the measurement with respect to a baseline (0). If qualitative, must be one of "EFO:0030069" (complete genomic loss), "EFO:0020073" (high-level loss), "EFO:0030068" (low-level loss), "EFO:0030067" (loss), "EFO:0030064" (regional base ploidy), "EFO:0030070" (gain), "EFO:0030071" (low-level gain), "EFO:0030072" (high-level gain).
2 changes: 1 addition & 1 deletion schema/cat-vrs/def/NumberCount.rst
Original file line number Diff line number Diff line change
Expand Up @@ -20,6 +20,6 @@ The absolute count of a discrete assayable unit (e.g. chromosome, gene, or seque
- 0..1
- MUST be "NumberCount"
* - count
- integer | `Range </ga4gh/schema/vrs/2.x/json/Range>`_
- integer | :ref:`Range`
- 1..1
- The integral quantity or quantity range of the subject in a system
8 changes: 4 additions & 4 deletions schema/cat-vrs/def/ProteinSequenceConsequence.rst
Original file line number Diff line number Diff line change
Expand Up @@ -33,22 +33,22 @@ Some ProteinSequenceConsequence attributes are inherited from :ref:`CategoricalV
- 0..m
- Alternative name(s) for the Entity.
* - extensions
- `Extension </ga4gh/schema/gks-common/1.x/data-types/json/Extension>`_
- :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.
* - mappings
- `ConceptMapping </ga4gh/schema/gks-common/1.x/data-types/json/ConceptMapping>`_
- :ref:`ConceptMapping`
- 0..m
- A list of mappings to concepts in terminologies or code systems. Each mapping should include a coding and a relation.
* - members
- `Variation </ga4gh/schema/vrs/2.x/json/Variation>`_ | `IRI </ga4gh/schema/gks-common/1.x/data-types/json/IRI>`_
- :ref:`Variation` | :ref:`IRI`
- 0..m
- A non-exhaustive list of VRS variation contexts that satisfy the constraints of this categorical variant.
* - type
- string
- 1..1
- MUST be "ProteinSequenceConsequence"
* - definingContext
- `Allele </ga4gh/schema/vrs/2.x/json/Allele>`_ | `IRI </ga4gh/schema/gks-common/1.x/data-types/json/IRI>`_
- :ref:`Allele` | :ref:`IRI`
- 1..1
- The `VRS Allele <https://vrs.ga4gh.org/en/2.0/terms_and_model.html#allele>`_ object that is congruent with (projects to the same codons) as alleles on other protein reference sequences.
1 change: 1 addition & 0 deletions schema/cat-vrs/json/CategoricalVariation
Original file line number Diff line number Diff line change
Expand Up @@ -3,6 +3,7 @@
"$id": "https://w3id.org/ga4gh/schema/cat-vrs/1.x/json/CategoricalVariation",
"title": "CategoricalVariation",
"type": "object",
"maturity": "draft",
"description": "A representation of a categorically-defined domain for variation, in which individual contextual variation instances may be members of the domain.",
"oneOf": [
{
Expand Down

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