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update submodule to vrs/common ballot.
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larrybabb committed Sep 9, 2024
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72 changes: 36 additions & 36 deletions schema/cat-vrs/cat-vrs-source.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -22,7 +22,7 @@ $defs:
inherits: gks.core-im:DomainEntity
maturity: draft
description: >-
A representation of a categorically-defined domain for variation, in which individual
A representation of a categorically-defined domain for variation, in which individual
contextual variation instances may be members of the domain.
oneOf:
- $ref: "#/$defs/CanonicalAllele"
Expand All @@ -38,8 +38,8 @@ $defs:
this categorical variant.
items:
oneOf:
- $ref: "/ga4gh/schema/vrs/2.x/json/Variation"
- $ref: "/ga4gh/schema/gks-common/1.x/data-types/json/IRI"
- $ref: "/ga4gh/schema/vrs/2.0.0-ballot.2024-08.1/json/Variation"
- $ref: "/ga4gh/schema/gks-common/1.0.0-ballot.2024-08.1/data-types/json/IRI"

ProteinSequenceConsequence:
type: object
Expand All @@ -49,8 +49,8 @@ $defs:
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.
The protein sequence consequence, like a :ref:`CanonicalAllele`, 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 Protein Alleles that share the same altered codon(s).
`Allele <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/MolecularVariation/Allele.html#>`
that is representative of a collection of congruent Protein Alleles that share the same altered codon(s).
properties:
type:
extends: type
Expand All @@ -59,11 +59,11 @@ $defs:
description: 'MUST be "ProteinSequenceConsequence"'
definingContext:
oneOf:
- $ref: "/ga4gh/schema/vrs/2.x/json/Allele"
- $ref: "/ga4gh/schema/gks-common/1.x/data-types/json/IRI"
- $ref: "/ga4gh/schema/vrs/2.0.0-ballot.2024-08.1/json/Allele"
- $ref: "/ga4gh/schema/gks-common/1.0.0-ballot.2024-08.1/data-types/json/IRI"
description: >-
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
The `Allele <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/MolecularVariation/Allele.html#>`_
object that is congruent with (projects to the same codons) as alleles on other protein reference
sequences.
required:
- definingContext
Expand All @@ -72,8 +72,8 @@ $defs:
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
A canonical allele is defined by an `Allele <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/MolecularVariation/Allele.html#>`_
that is representative of a collection of congruent Alleles, each of which depict the same nucleic acid
change on different underlying reference sequences. Congruent representations of an Allele often exist
across different genome assemblies and associated cDNA transcript representations.
type: object
Expand All @@ -85,10 +85,10 @@ $defs:
description: 'MUST be "CanonicalAllele"'
definingContext:
oneOf:
- $ref: "/ga4gh/schema/vrs/2.x/json/Allele"
- $ref: "/ga4gh/schema/gks-common/1.x/data-types/json/IRI"
- $ref: "/ga4gh/schema/vrs/2.0.0-ballot.2024-08.1/json/Allele"
- $ref: "/ga4gh/schema/gks-common/1.0.0-ballot.2024-08.1/data-types/json/IRI"
description: >-
The `VRS Allele <https://vrs.ga4gh.org/en/2.0/terms_and_model.html#allele>`_
The `Allele <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/MolecularVariation/Allele.html#>`_
object that is congruent with variants on alternate reference sequences.
required:
- definingContext
Expand All @@ -98,12 +98,12 @@ $defs:
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
a collection of congruent Locations. The change or count of this sequence is also described, either
by a numeric value (e.g. "3 or more copies") or categorical representation (e.g. "high-level gain").
Categorical CNVs may optionally be defined by rules specifying the location match characteristics for
member CNVs.
A categorical variation domain is defined first by a sequence derived from a canonical `SequenceLocation
<https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/LocationAndReference/SequenceLocation.html>`_ ,
which is representative of a collection of congruent Locations. The change or count of this sequence is
also described, either by a numeric value (e.g. "3 or more copies") or categorical representation
(e.g. "high-level gain"). Categorical CNVs may optionally be defined by rules specifying the location
match characteristics for member CNVs.
properties:
type:
extends: type
Expand All @@ -112,34 +112,34 @@ $defs:
description: 'MUST be "CategoricalCnv"'
location:
oneOf:
- $ref: "/ga4gh/schema/vrs/2.x/json/SequenceLocation"
- $ref: "/ga4gh/schema/gks-common/1.x/data-types/json/IRI"
- $ref: "/ga4gh/schema/vrs/2.0.0-ballot.2024-08.1/json/SequenceLocation"
- $ref: "/ga4gh/schema/gks-common/1.0.0-ballot.2024-08.1/data-types/json/IRI"
description: >-
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
A `SequenceLocation <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/LocationAndReference/SequenceLocation.html>`_
object that represents a sequence derived from that location, and is congruent with locations
on alternate reference sequences.
locationMatchCharacteristic:
type: string
enum: ['exact', 'partial', 'subinterval', 'superinterval']
description: >-
The characteristics of a valid match between a contextual CNV location (the query) and the
Categorical CNV location (the domain), when both query and domain are represented on the same
reference sequence. An `exact` match requires the location of the query and domain to be identical.
The characteristics of a valid match between a contextual CNV location (the query) and the
Categorical CNV location (the domain), when both query and domain are represented on the same
reference sequence. An `exact` match requires the location of the query and domain to be identical.
A `subinterval` match requires the query to be a subinterval of the domain. A `superinterval` match
requires the query to be a superinterval of the domain. A `partial` match requires at least 1 residue
of overlap between the query and domain.
copyChange:
type: string
enum: [ "EFO:0030069", "EFO:0020073", "EFO:0030068", "EFO:0030067", "EFO:0030064", "EFO:0030070", "EFO:0030071", "EFO:0030072" ]
description: >-
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"
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:
oneOf:
- type: integer
- $ref: "/ga4gh/schema/vrs/2.x/json/Range"
- $ref: "/ga4gh/schema/vrs/2.0.0-ballot.2024-08.1/json/Range"
description: >-
The integral number of copies of the subject in a system.
required:
Expand All @@ -163,12 +163,12 @@ $defs:
label:
extends: label
description: >-
A primary label for the categorical variation. This required property should provide a
A primary label for the categorical variation. This required property should provide a
short and descriptive textual representation of the concept.
description:
extends: description
description: >-
A textual description of the domain of variation that should match the categorical
A textual description of the domain of variation that should match the categorical
variation entity.
required:
- label
Expand Down Expand Up @@ -240,7 +240,7 @@ $defs:
count:
oneOf:
- type: integer
- $ref: "/ga4gh/schema/vrs/2.x/json/Range"
- $ref: "/ga4gh/schema/vrs/2.0.0-ballot.2024-08.1/json/Range"
description: >-
The integral quantity or quantity range of the subject in a system
required: [ "count" ]
Expand All @@ -266,7 +266,7 @@ $defs:
change:
oneOf:
- type: integer
- $ref: "/ga4gh/schema/vrs/2.x/json/Range"
- $ref: "/ga4gh/schema/vrs/2.0.0-ballot.2024-08.1/json/Range"
- copyChange:
type: string
enum: [ "EFO:0030069", "EFO:0020073", "EFO:0030068", "EFO:0030067", "EFO:0030064", "EFO:0030070",
Expand Down Expand Up @@ -323,7 +323,7 @@ $defs:
# copies:
# oneOf:
# - type: integer
# - $ref: "/ga4gh/schema/vrs/2.x/json/Range"
# - $ref: "/ga4gh/schema/vrs/2.0.0-ballot.2024-08.1/json/Range"
# description: >-
# The integral number of copies of the subject in a system.
# required:
Expand Down
4 changes: 2 additions & 2 deletions schema/cat-vrs/def/CanonicalAllele.rst
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
**Computational Definition**

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 change on different underlying reference sequences. Congruent representations of an Allele often exist across different genome assemblies and associated cDNA transcript representations.
A canonical allele is defined by an `Allele <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/MolecularVariation/Allele.html#>`_ that is representative of a collection of congruent Alleles, each of which depict the same nucleic acid change on different underlying reference sequences. Congruent representations of an Allele often exist across different genome assemblies and associated cDNA transcript representations.

**Information Model**

Expand Down Expand Up @@ -51,4 +51,4 @@ Some CanonicalAllele attributes are inherited from :ref:`CategoricalVariation`.
* - definingContext
- :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.
- The `Allele <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/MolecularVariation/Allele.html#>`_ object that is congruent with variants on alternate reference sequences.
8 changes: 4 additions & 4 deletions schema/cat-vrs/def/CategoricalCnv.rst
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
**Computational Definition**

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 a collection of congruent Locations. The change or count of this sequence is also described, either by a numeric value (e.g. "3 or more copies") or categorical representation (e.g. "high-level gain"). Categorical CNVs may optionally be defined by rules specifying the location match characteristics for member CNVs.
A categorical variation domain is defined first by a sequence derived from a canonical `SequenceLocation <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/LocationAndReference/SequenceLocation.html>`_ , which is representative of a collection of congruent Locations. The change or count of this sequence is also described, either by a numeric value (e.g. "3 or more copies") or categorical representation (e.g. "high-level gain"). Categorical CNVs may optionally be defined by rules specifying the location match characteristics for member CNVs.

**Information Model**

Expand Down Expand Up @@ -51,15 +51,15 @@ Some CategoricalCnv attributes are inherited from :ref:`CategoricalVariation`.
* - location
- :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.
- A `SequenceLocation <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/LocationAndReference/SequenceLocation.html>`_ object that represents a sequence derived from that location, and is congruent with locations on alternate reference sequences.
* - locationMatchCharacteristic
- string
- 0..1
- The characteristics of a valid match between a contextual CNV location (the query) and the Categorical CNV location (the domain), when both query and domain are represented on the same reference sequence. An `exact` match requires the location of the query and domain to be identical. A `subinterval` match requires the query to be a subinterval of the domain. A `superinterval` match requires the query to be a superinterval of the domain. A `partial` match requires at least 1 residue of overlap between the query and domain.
- The characteristics of a valid match between a contextual CNV location (the query) and the Categorical CNV location (the domain), when both query and domain are represented on the same reference sequence. An `exact` match requires the location of the query and domain to be identical. A `subinterval` match requires the query to be a subinterval of the domain. A `superinterval` match requires the query to be a superinterval of the domain. A `partial` match requires at least 1 residue of overlap between the query and domain.
* - copyChange
- string
- 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).
- 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 | :ref:`Range`
- 0..1
Expand Down
2 changes: 1 addition & 1 deletion schema/cat-vrs/def/CategoricalVariation.rst
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
**Computational Definition**

A representation of a categorically-defined domain for variation, in which individual contextual variation instances may be members of the domain.
A representation of a categorically-defined domain for variation, in which individual contextual variation instances may be members of the domain.

**Information Model**

Expand Down
4 changes: 2 additions & 2 deletions schema/cat-vrs/def/DescribedVariation.rst
Original file line number Diff line number Diff line change
Expand Up @@ -43,8 +43,8 @@ Some DescribedVariation attributes are inherited from :ref:`CategoricalVariation
* - label
- string
- 1..1
- A primary label for the categorical variation. This required property should provide a short and descriptive textual representation of the concept.
- A primary label for the categorical variation. This required property should provide a short and descriptive textual representation of the concept.
* - description
- string
- 0..1
- A textual description of the domain of variation that should match the categorical variation entity.
- A textual description of the domain of variation that should match the categorical variation entity.
4 changes: 2 additions & 2 deletions schema/cat-vrs/def/ProteinSequenceConsequence.rst
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
**Computational Definition**

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. The protein sequence consequence, like a :ref:`CanonicalAllele`, 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 Protein Alleles that share the same altered codon(s).
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. The protein sequence consequence, like a :ref:`CanonicalAllele`, is defined by an `Allele <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/MolecularVariation/Allele.html#>` that is representative of a collection of congruent Protein Alleles that share the same altered codon(s).

**Information Model**

Expand Down Expand Up @@ -51,4 +51,4 @@ Some ProteinSequenceConsequence attributes are inherited from :ref:`CategoricalV
* - definingContext
- :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.
- The `Allele <https://vrs.ga4gh.org/en/2.0.0-ballot.2024-08/concepts/MolecularVariation/Allele.html#>`_ object that is congruent with (projects to the same codons) as alleles on other protein reference sequences.
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