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reset baseline copyConstraint from discussions at ashg unconference #69

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2 changes: 1 addition & 1 deletion examples/canonicalAllele-ex1.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -2,7 +2,7 @@ id: clinvar:662001
label: NM_004958.4(MTOR):c.5992_5993del (p.Met1998fs)
type: CategoricalVariant
constraints:
- type: DefiningAlleleContext
- type: DefiningAlleleConstraint
allele:
id: ga4gh:VA.PN-6_l2_yI1UPBRCtFnWkR52iZXKVJ8b
type: Allele
Expand Down
4 changes: 2 additions & 2 deletions examples/categoricalCnv-ex1.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -2,9 +2,9 @@ id: clinvar:151061
type: CategoricalVariant
label: GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3
constraints:
- type: CopyCountConstraint
- type: CopyConstraint
copies: 3
- type: DefiningLocationContext
- type: DefiningLocationConstraint
location:
type: SequenceLocation
start: [null, 5945462]
Expand Down
9 changes: 3 additions & 6 deletions examples/categoricalCnv-ex2.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -2,12 +2,9 @@ id: clinvar:151061
type: CategoricalVariant
label: GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3
constraints:
- type: CopyChangeConstraint
copyChange:
system: https://www.ebi.ac.uk/ols4/search?ontology=efo&q=
code: EFO:0030070
label: Copy Number Gain
- type: DefiningLocationContext
- type: CopyConstraint
copyChange: EFO:0030070
- type: DefiningLocationConstraint
location:
type: SequenceLocation
start: [null, 5945462]
Expand Down
2 changes: 1 addition & 1 deletion examples/proteinSequenceConsequence-ex1.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -11,7 +11,7 @@ description: >-
treating patients that failed to respond to earlier generation TKI therapies.
label: EGFR L858R
constraints:
- type: "DefiningAlleleContext"
- type: DefiningAlleleConstraint
allele: vrs.json#/ga4gh:VA.kgjrhgf84CEndyLjKdAO0RxN-e3pJjxA
members:
- vrs.json#/ga4gh:VA.7jX7fHgVEqx4C4jMRyZOH0ZBHnLn7_gJ
Expand Down
102 changes: 44 additions & 58 deletions schema/cat-vrs/cat-vrs-source.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -17,10 +17,10 @@ $defs:
CategoricalVariant:
type: object
inherits: gks-core:Entity
maturity: draft
maturity: trial use
description: >-
A representation of a categorically-defined domain for variation, in which individual
contextual variation instances may be members of the domain.
Constraintual variation instances may be members of the domain.
properties:
type:
extends: type
Expand All @@ -31,7 +31,7 @@ $defs:
type: array
ordered: false
description: >-
A non-exhaustive list of VRS variation contexts that satisfy the constraints of
A non-exhaustive list of VRS variation Constraints that satisfy the constraints of
this categorical variant.
items:
oneOf:
Expand All @@ -56,22 +56,21 @@ $defs:
# =============================================================================

Constraint:
maturity: draft
maturity: trial use
description: >-
Constraints are used to construct an intensional semantics of categorical variant types.
oneOf:
- $ref: "#/$defs/DefiningAlleleContext"
- $ref: "#/$defs/DefiningLocationContext"
- $ref: "#/$defs/CopyCountConstraint"
- $ref: "#/$defs/CopyChangeConstraint"
- $ref: "#/$defs/DefiningAlleleConstraint"
- $ref: "#/$defs/DefiningLocationConstraint"
- $ref: "#/$defs/CopyConstraint"
heritableProperties:
type:
type: string
heritableRequired:
- type

DefiningAlleleContext:
maturity: draft
DefiningAlleleConstraint:
maturity: trial use
type: object
inherits: Constraint
description: >-
Expand All @@ -80,9 +79,9 @@ $defs:
properties:
type:
extends: type
const: DefiningAlleleContext
default: DefiningAlleleContext
description: 'MUST be "DefiningAlleleContext"'
const: DefiningAlleleConstraint
default: DefiningAlleleConstraint
description: 'MUST be "DefiningAlleleConstraint"'
allele:
oneOf:
- $ref: /ga4gh/schema/vrs/2.x/json/Allele
Expand All @@ -100,16 +99,16 @@ $defs:
- translates_to
- translates_through
description: >-
Defined relationships from which members relate to the defining context.
Defined relationships from which members relate to the defining allele.
``sequence_liftover`` refers to variants or locations that represent a congruent concept on a differing assembly of a
human genome (e.g. "GRCh37" and "GRCh38") or gene (e.g. Locus Reference Genomic) sequence. ``transcript_projection``
refers to variants or locations that occur on transcripts projected from the defined genomic concept. ``codon_translation``
refers to variants or locations that translate from the codon(s) represented by the defined concept.
required:
- allele

DefiningLocationContext:
maturity: draft
DefiningLocationConstraint:
maturity: trial use
type: object
inherits: Constraint
description: >-
Expand All @@ -118,9 +117,9 @@ $defs:
properties:
type:
extends: type
const: DefiningLocationContext
default: DefiningLocationContext
description: 'MUST be "DefiningLocationContext"'
const: DefiningLocationConstraint
default: DefiningLocationConstraint
description: 'MUST be "DefiningLocationConstraint"'
location:
oneOf:
- $ref: /ga4gh/schema/vrs/2.x/json/SequenceLocation
Expand All @@ -138,7 +137,7 @@ $defs:
- translates_to
- translates_through
description: >-
Defined relationships from which members relate to the defining context.
Defined relationships from which members relate to the defining location.
``sequence_liftover`` refers to variants or locations that represent a congruent concept on a differing assembly of a
human genome (e.g. "GRCh37" and "GRCh38") or gene (e.g. Locus Reference Genomic) sequence. ``transcript_projection``
refers to variants or locations that occur on transcripts projected from the defined genomic concept. ``codon_translation``
Expand All @@ -156,50 +155,37 @@ $defs:
- location
- matchCharacteristic

CopyCountConstraint:
maturity: draft
CopyConstraint:
maturity: trial use
inherits: Constraint
type: object
description:
The absolute number of copies in a system
The quantity of copies or the type of copy change that a member of this
categorical variant must have. One and only one MUST be specified.
properties:
type:
extends: type
const: CopyCountConstraint
default: CopyCountConstraint
description: 'MUST be "CopyCountConstraint"'
const: CopyConstraint
default: CopyConstraint
description: 'MUST be "CopyConstraint"'
copies:
description: >-
The precise value or range of copies a member of this categorical
variant must have.
oneOf:
- type: integer
- $ref: /ga4gh/schema/vrs/2.x/json/Range
required:
- copies

CopyChangeConstraint:
maturity: draft
inherits: Constraint
type: object
description:
A representation of copy number change
properties:
type:
extends: type
const: CopyChangeConstraint
default: CopyChangeConstraint
description: 'MUST be "CopyChangeConstraint"'
- type: integer
- $ref: /ga4gh/schema/vrs/2.x/json/Range
copyChange:
$ref: /ga4gh/schema/gks-core/1.x/json/Coding
items:
properties:
code:
enum:
- EFO:0030069
- EFO:0020073
- EFO:0030068
- EFO:0030067
- EFO:0030064
- EFO:0030070
- EFO:0030071
- EFO:0030072
required:
- copyChange
description: >-
The type of copy change a member of this categorical variant must
have.
type: string
enum:
- EFO:0030069
- EFO:0020073
- EFO:0030068
- EFO:0030067
- EFO:0030064
- EFO:0030070
- EFO:0030071
- EFO:0030072
9 changes: 4 additions & 5 deletions schema/cat-vrs/def/CategoricalVariant.rst
Original file line number Diff line number Diff line change
@@ -1,12 +1,11 @@

.. warning:: This data class is at a **draft** maturity level and may change
significantly in future releases. Maturity levels are described in
the :ref:`maturity-model`.
.. 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 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 Constraintual variation instances may be members of the domain.

**Information Model**

Expand Down Expand Up @@ -49,7 +48,7 @@ Some CategoricalVariant attributes are inherited from :ref:`gks-core:Entity`.
* - members
- :ref:`Variation` | :ref:`IRI`
- 0..m
- A non-exhaustive list of VRS variation contexts that satisfy the constraints of this categorical variant.
- A non-exhaustive list of VRS variation Constraints that satisfy the constraints of this categorical variant.
* - constraints
- :ref:`Constraint`
- 0..m
Expand Down
5 changes: 2 additions & 3 deletions schema/cat-vrs/def/Constraint.rst
Original file line number Diff line number Diff line change
@@ -1,7 +1,6 @@

.. warning:: This data class is at a **draft** maturity level and may change
significantly in future releases. Maturity levels are described in
the :ref:`maturity-model`.
.. 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 Down
32 changes: 0 additions & 32 deletions schema/cat-vrs/def/CopyChangeConstraint.rst

This file was deleted.

35 changes: 35 additions & 0 deletions schema/cat-vrs/def/CopyConstraint.rst
Original file line number Diff line number Diff line change
@@ -0,0 +1,35 @@

.. 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**

The quantity of copies or the type of copy change that a member of this categorical variant must have. One and only one MUST be specified.

**Information Model**

Some CopyConstraint attributes are inherited from :ref:`Constraint`.

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

* - Field
- Type
- Limits
- Description
* - type
- string
- 1..1
- MUST be "CopyConstraint"
* - copies
- integer | :ref:`Range`
- 0..1
- The precise value or range of copies a member of this categorical variant must have.
* - copyChange
- string
- 0..1
- The type of copy change a member of this categorical variant must have.
32 changes: 0 additions & 32 deletions schema/cat-vrs/def/CopyCountConstraint.rst

This file was deleted.

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