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larrybabb committed Feb 10, 2025
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2 changes: 1 addition & 1 deletion docs/source/appendices/design_decisions.rst
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Expand Up @@ -59,7 +59,7 @@ As an example, the Github JSON Schema URL ($id) for the VRS 2.0.0 Allele is:
{
"$schema": "https://json-schema.org/draft/2020-12/schema",
"$id": "https://w3id.org/ga4gh/schema/vrs/2.0.0/json/Allele",
"$id": "https://w3id.org/ga4gh/schema/vrs/2.0/json/Allele",
...
}
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6 changes: 0 additions & 6 deletions docs/source/concepts/AdditionalDataTypes/Element.rst

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6 changes: 0 additions & 6 deletions docs/source/concepts/AdditionalDataTypes/Entity.rst

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6 changes: 0 additions & 6 deletions docs/source/concepts/AdditionalDataTypes/Extension.rst

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80 changes: 70 additions & 10 deletions docs/source/concepts/AdditionalDataTypes/index.rst
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Expand Up @@ -4,6 +4,8 @@ Additional Data Types
!!!!!!!!!!!!!!!!!!!!!

Below are the additional data types used by the VRS models.
Any classes with the *imported* tag are used by VRS but maintained by the GA4GH GKS
Work Stream as common data classes.

Abstract Classes
@@@@@@@@@@@@@@@@
Expand Down Expand Up @@ -56,6 +58,62 @@ represent variants using other syntaxes, including HGVS and SPDI.

.. include:: ../../def/vrs/Expression.rst

.. _gks-core:Entity:
.. _Entity:

Entity
######
*imported*

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

.. _gks-core:Element:
.. _Element:

Element
#######
*imported*

.. include:: ../../def/gks-core/Element.rst

General Purposes Types
@@@@@@@@@@@@@@@@@@@@@@

General purpose data types.

.. _Extension:

Extension
#########
*imported*

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

.. _MappableConcept:

Mappable Concept
################
*imported*

.. include:: ../../def/gks-core/MappableConcept.rst

.. _ConceptMapping:

Concept Mapping
###############
*imported*

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

.. _Coding:

Coding
######
*imported*

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


Primitive Types
@@@@@@@@@@@@@@@

Expand Down Expand Up @@ -83,16 +141,18 @@ sequenceString

.. include:: ../../def/vrs/sequenceString.rst

Imported Classes
@@@@@@@@@@@@@@@@
.. _code:

The following classes are used by VRS but maintained by the GA4GH GKS
Work Stream as common data classes.
code
####
*imported*

.. include:: ../../def/gks-core/Code.rst

.. _iriReference:

.. toctree::
:titlesonly:
iriReference
############
*imported*

Entity
Element
Extension
iriReference
.. include:: ../../def/gks-core/iriReference.rst
6 changes: 0 additions & 6 deletions docs/source/concepts/AdditionalDataTypes/iriReference.rst

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Expand Up @@ -57,7 +57,7 @@ In some variant representation formats (e.g. HGVS, VCF) sequence variants are de
(ref) and "alternate" (alt) alleles. When representing an Allele with VRS v2, it is also possible to describe the
ref sequence (derived from the :ref:`SequenceReference` at the location) using the *sequence* property.

The ``sequence`` property is **for describing the sequence derived from the SequenceLocation**, and is not a
The *sequence* property is **for describing the sequence derived from the SequenceLocation**, and is not a
substitute for the ``sequenceReference`` property that references the sequence on which the location is defined.

.. admonition:: New in v2
Expand All @@ -68,7 +68,7 @@ substitute for the ``sequenceReference`` property that references the sequence o
Linear and Circular Sequence Coordinates
########################################

When representing a linear sequence, it is expected that for a :ref:`Sequence` of length *n*, ``0 ≤ start ≤ end ≤ n``
When representing a linear sequence, it is expected that for a :ref:`SequenceReference` of length *n*, ``0 ≤ start ≤ end ≤ n``

For a circular sequence, ``0 ≤ end ≤ start ≤ n`` is also allowed. In cases where ``end < start``, this represents
a location that spans the circular sequence origin coordinate.
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15 changes: 11 additions & 4 deletions docs/source/concepts/LocationAndReference/index.rst
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@@ -1,11 +1,18 @@
Locations and References
!!!!!!!!!!!!!!!!!!!!!!!!

All VRS variation objects are built on :ref:`Sequence Locations<SequenceLocation>`, and
by extension, :ref:`Sequence References<SequenceReference>`.
.. _Location:

Location
@@@@@@@@

.. include:: ../../def/vrs/Location.rst

All VRS variation objects are built on :ref:`Sequence Locations<SequenceLocation>`
and, by extension all references are built on, :ref:`Sequence References<SequenceReference>`.

.. toctree::
:titlesonly:
:maxdepth: 1

SequenceLocation
SequenceReference
SequenceReference
2 changes: 1 addition & 1 deletion docs/source/concepts/MolecularVariation/Allele.rst
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Expand Up @@ -76,5 +76,5 @@ Expressions

.. admonition:: New in v2

The v2 :ref:`variation` classes now support :ref:`expressions`. This is a convenient mechanism for annotating Alleles using
The v2 :ref:`Variation` classes now support :ref:`Expression`. This is a convenient mechanism for annotating Alleles using
string syntaxes following the conventions other variant standards (e.g. HGVS, SPDI) and resources (e.g. ClinVar, gnomAD).
3 changes: 3 additions & 0 deletions docs/source/concepts/SequenceExpression/LengthExpression.rst
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Expand Up @@ -5,6 +5,9 @@ Length Expression

.. admonition:: New in V2

The `LengthExpression` class is new in VRS v2, and was designed as a means for
handling unknown sequence content with known length.

A length expression is used to represent molecular sequences with known length
but unknown sequence content, typically as determined by molecular weight assays
(e.g. gel electrophoresis).
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2 changes: 0 additions & 2 deletions docs/source/concepts/SystemicVariation/CopyNumberCount.rst
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Expand Up @@ -12,8 +12,6 @@ Definition and Information Model

.. include:: ../../def/vrs/CopyNumberCount.rst

.. _CopyNumberCount:

Example
@@@@@@@

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16 changes: 7 additions & 9 deletions docs/source/conventions/computed_identifiers.rst
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Expand Up @@ -259,15 +259,13 @@ For example, the identifier for the allele example under :ref:`digest-serializat
ga4gh\:VA.0AePZIWZUNsUlQTamyLrjm2HWUw2opLt\_
.. warning::

GA4GH Computed Identifiers are a key mechanism for globally unique federated identification of variants.
However, as described here, these identifiers are dependent upon the structure of the object from which
the identifier is constructed. Consequently, there is no guarantee that VRS computed identifiers will
remain stable across major version releases of VRS; for example, all VRS v1.x computed identifiers are
distinct from all VRS v2.x identifiers. It is recommended that implementers heed the maturity level of
data classes as defined by the :ref:`maturity-model` when gauging the stability of data classes-and
therefore object identifiers from those classes-across releases of VRS.
.. warning:: GA4GH Computed Identifiers are a key mechanism for globally unique federated identification of variants. \
However, as described here, these identifiers are dependent upon the structure of the object from which \
the identifier is constructed. Consequently, there is no guarantee that VRS computed identifiers will \
remain stable across major version releases of VRS; for example, all VRS v1.x computed identifiers are \
distinct from all VRS v2.x identifiers. It is recommended that implementers heed the maturity level of \
data classes as defined by the :ref:`maturity-model` when gauging the stability of data classes-and \
therefore object identifiers from those classes-across releases of VRS.

References
@@@@@@@@@@
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2 changes: 1 addition & 1 deletion docs/source/conventions/example.rst
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Expand Up @@ -103,7 +103,7 @@ VRS JSON Schema.


Generate a computed identifier
@@@@@@@@@@@@@@@@@@@@@@@@@@@@@
@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@

A key feature of VRS is an easily-implemented algorithm to
generate computed, digest-based identifiers for variation objects.
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3 changes: 0 additions & 3 deletions docs/source/introduction.rst
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Expand Up @@ -39,6 +39,3 @@ The machine readable schema definitions and example code are available online at
repository (https://github.com/ga4gh/vrs).

Readers may wish to view a :ref:`complete example <example>` before reading the specification.

For a discussion of VRS with respect to existing standards, such as HGVS, SPDI, and VCF, see
:ref:`relationships`.
4 changes: 2 additions & 2 deletions schema/vrs/def/Adjacency.rst
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Expand Up @@ -41,7 +41,7 @@ Some Adjacency attributes are inherited from :ref:`Variation`.
- string
- 0..1
- The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
* - label
* - name
-
- string
- 0..1
Expand All @@ -51,7 +51,7 @@ Some Adjacency attributes are inherited from :ref:`Variation`.
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
* - aliases
-
.. raw:: html

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4 changes: 2 additions & 2 deletions schema/vrs/def/Allele.rst
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Expand Up @@ -41,7 +41,7 @@ Some Allele attributes are inherited from :ref:`Variation`.
- string
- 0..1
- The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
* - label
* - name
-
- string
- 0..1
Expand All @@ -51,7 +51,7 @@ Some Allele attributes are inherited from :ref:`Variation`.
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
* - aliases
-
.. raw:: html

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4 changes: 2 additions & 2 deletions schema/vrs/def/CisPhasedBlock.rst
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Expand Up @@ -41,7 +41,7 @@ Some CisPhasedBlock attributes are inherited from :ref:`Variation`.
- string
- 0..1
- The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
* - label
* - name
-
- string
- 0..1
Expand All @@ -51,7 +51,7 @@ Some CisPhasedBlock attributes are inherited from :ref:`Variation`.
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
* - aliases
-
.. raw:: html

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4 changes: 2 additions & 2 deletions schema/vrs/def/CopyNumberChange.rst
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Expand Up @@ -41,7 +41,7 @@ Some CopyNumberChange attributes are inherited from :ref:`Variation`.
- string
- 0..1
- The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
* - label
* - name
-
- string
- 0..1
Expand All @@ -51,7 +51,7 @@ Some CopyNumberChange attributes are inherited from :ref:`Variation`.
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
* - aliases
-
.. raw:: html

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4 changes: 2 additions & 2 deletions schema/vrs/def/CopyNumberCount.rst
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Expand Up @@ -41,7 +41,7 @@ Some CopyNumberCount attributes are inherited from :ref:`Variation`.
- string
- 0..1
- The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
* - label
* - name
-
- string
- 0..1
Expand All @@ -51,7 +51,7 @@ Some CopyNumberCount attributes are inherited from :ref:`Variation`.
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
* - aliases
-
.. raw:: html

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4 changes: 2 additions & 2 deletions schema/vrs/def/DerivativeMolecule.rst
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Expand Up @@ -41,7 +41,7 @@ Some DerivativeMolecule attributes are inherited from :ref:`Variation`.
- string
- 0..1
- The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
* - label
* - name
-
- string
- 0..1
Expand All @@ -51,7 +51,7 @@ Some DerivativeMolecule attributes are inherited from :ref:`Variation`.
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
* - aliases
-
.. raw:: html

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4 changes: 2 additions & 2 deletions schema/vrs/def/Ga4ghIdentifiableObject.rst
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Expand Up @@ -46,7 +46,7 @@ Some Ga4ghIdentifiableObject attributes are inherited from :ref:`gks-core:Entity
- string
- 1..1
-
* - label
* - name
-
- string
- 0..1
Expand All @@ -56,7 +56,7 @@ Some Ga4ghIdentifiableObject attributes are inherited from :ref:`gks-core:Entity
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
* - aliases
-
.. raw:: html

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4 changes: 2 additions & 2 deletions schema/vrs/def/LengthExpression.rst
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Expand Up @@ -41,7 +41,7 @@ Some LengthExpression attributes are inherited from :ref:`SequenceExpression`.
- string
- 0..1
- The 'logical' identifier of the Entity in the system of record, e.g. a UUID. This 'id' is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
* - label
* - name
-
- string
- 0..1
Expand All @@ -51,7 +51,7 @@ Some LengthExpression attributes are inherited from :ref:`SequenceExpression`.
- string
- 0..1
- A free-text description of the Entity.
* - alternativeLabels
* - aliases
-
.. raw:: html

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