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docs/source/appendices/design_decisions.rst

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@@ -59,7 +59,7 @@ As an example, the Github JSON Schema URL ($id) for the VRS 2.0.0 Allele is:
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{
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"$schema": "https://json-schema.org/draft/2020-12/schema",
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"$id": "https://w3id.org/ga4gh/schema/vrs/2.0.0/json/Allele",
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"$id": "https://w3id.org/ga4gh/schema/vrs/2.0/json/Allele",
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...
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}
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docs/source/concepts/AdditionalDataTypes/Element.rst

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docs/source/concepts/AdditionalDataTypes/Entity.rst

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docs/source/concepts/AdditionalDataTypes/Extension.rst

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docs/source/concepts/AdditionalDataTypes/index.rst

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@@ -4,6 +4,8 @@ Additional Data Types
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!!!!!!!!!!!!!!!!!!!!!
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Below are the additional data types used by the VRS models.
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Any classes with the *imported* tag are used by VRS but maintained by the GA4GH GKS
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Work Stream as common data classes.
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Abstract Classes
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@@@@@@@@@@@@@@@@
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.. include:: ../../def/vrs/Expression.rst
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.. _gks-core:Entity:
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.. _Entity:
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Entity
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######
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*imported*
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.. include:: ../../def/gks-core/Entity.rst
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.. _gks-core:Element:
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.. _Element:
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Element
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#######
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*imported*
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.. include:: ../../def/gks-core/Element.rst
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General Purposes Types
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General purpose data types.
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.. _Extension:
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Extension
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#########
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*imported*
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.. include:: ../../def/gks-core/Extension.rst
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.. _MappableConcept:
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Mappable Concept
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################
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*imported*
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.. include:: ../../def/gks-core/MappableConcept.rst
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.. _ConceptMapping:
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Concept Mapping
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###############
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*imported*
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.. include:: ../../def/gks-core/ConceptMapping.rst
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.. _Coding:
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Coding
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######
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*imported*
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.. include:: ../../def/gks-core/Coding.rst
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Primitive Types
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.. include:: ../../def/vrs/sequenceString.rst
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Imported Classes
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.. _code:
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The following classes are used by VRS but maintained by the GA4GH GKS
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Work Stream as common data classes.
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code
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####
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*imported*
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.. include:: ../../def/gks-core/Code.rst
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.. _iriReference:
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.. toctree::
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:titlesonly:
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iriReference
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############
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*imported*
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Entity
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Element
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Extension
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iriReference
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.. include:: ../../def/gks-core/iriReference.rst

docs/source/concepts/AdditionalDataTypes/iriReference.rst

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docs/source/concepts/LocationAndReference/SequenceLocation.rst

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@@ -57,7 +57,7 @@ In some variant representation formats (e.g. HGVS, VCF) sequence variants are de
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(ref) and "alternate" (alt) alleles. When representing an Allele with VRS v2, it is also possible to describe the
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ref sequence (derived from the :ref:`SequenceReference` at the location) using the *sequence* property.
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The ``sequence`` property is **for describing the sequence derived from the SequenceLocation**, and is not a
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The *sequence* property is **for describing the sequence derived from the SequenceLocation**, and is not a
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substitute for the ``sequenceReference`` property that references the sequence on which the location is defined.
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.. admonition:: New in v2
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Linear and Circular Sequence Coordinates
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########################################
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When representing a linear sequence, it is expected that for a :ref:`Sequence` of length *n*, ``0 ≤ start ≤ end ≤ n``
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When representing a linear sequence, it is expected that for a :ref:`SequenceReference` of length *n*, ``0 ≤ start ≤ end ≤ n``
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For a circular sequence, ``0 ≤ end ≤ start ≤ n`` is also allowed. In cases where ``end < start``, this represents
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a location that spans the circular sequence origin coordinate.
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Locations and References
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!!!!!!!!!!!!!!!!!!!!!!!!
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All VRS variation objects are built on :ref:`Sequence Locations<SequenceLocation>`, and
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by extension, :ref:`Sequence References<SequenceReference>`.
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.. _Location:
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Location
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.. include:: ../../def/vrs/Location.rst
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All VRS variation objects are built on :ref:`Sequence Locations<SequenceLocation>`
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and, by extension all references are built on, :ref:`Sequence References<SequenceReference>`.
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.. toctree::
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:titlesonly:
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:maxdepth: 1
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SequenceLocation
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SequenceReference
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SequenceReference

docs/source/concepts/MolecularVariation/Allele.rst

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.. admonition:: New in v2
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The v2 :ref:`variation` classes now support :ref:`expressions`. This is a convenient mechanism for annotating Alleles using
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The v2 :ref:`Variation` classes now support :ref:`Expression`. This is a convenient mechanism for annotating Alleles using
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string syntaxes following the conventions other variant standards (e.g. HGVS, SPDI) and resources (e.g. ClinVar, gnomAD).

docs/source/concepts/SequenceExpression/LengthExpression.rst

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.. admonition:: New in V2
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The `LengthExpression` class is new in VRS v2, and was designed as a means for
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handling unknown sequence content with known length.
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A length expression is used to represent molecular sequences with known length
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but unknown sequence content, typically as determined by molecular weight assays
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(e.g. gel electrophoresis).

docs/source/concepts/SystemicVariation/CopyNumberCount.rst

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.. include:: ../../def/vrs/CopyNumberCount.rst
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.. _CopyNumberCount:
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Example
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docs/source/conventions/computed_identifiers.rst

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@@ -259,15 +259,13 @@ For example, the identifier for the allele example under :ref:`digest-serializat
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ga4gh\:VA.0AePZIWZUNsUlQTamyLrjm2HWUw2opLt\_
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.. warning::
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GA4GH Computed Identifiers are a key mechanism for globally unique federated identification of variants.
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However, as described here, these identifiers are dependent upon the structure of the object from which
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the identifier is constructed. Consequently, there is no guarantee that VRS computed identifiers will
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remain stable across major version releases of VRS; for example, all VRS v1.x computed identifiers are
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distinct from all VRS v2.x identifiers. It is recommended that implementers heed the maturity level of
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data classes as defined by the :ref:`maturity-model` when gauging the stability of data classes-and
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therefore object identifiers from those classes-across releases of VRS.
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.. warning:: GA4GH Computed Identifiers are a key mechanism for globally unique federated identification of variants. \
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However, as described here, these identifiers are dependent upon the structure of the object from which \
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the identifier is constructed. Consequently, there is no guarantee that VRS computed identifiers will \
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remain stable across major version releases of VRS; for example, all VRS v1.x computed identifiers are \
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distinct from all VRS v2.x identifiers. It is recommended that implementers heed the maturity level of \
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data classes as defined by the :ref:`maturity-model` when gauging the stability of data classes-and \
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therefore object identifiers from those classes-across releases of VRS.
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References
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docs/source/conventions/example.rst

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Generate a computed identifier
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A key feature of VRS is an easily-implemented algorithm to
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generate computed, digest-based identifiers for variation objects.

docs/source/introduction.rst

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repository (https://github.com/ga4gh/vrs).
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Readers may wish to view a :ref:`complete example <example>` before reading the specification.
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For a discussion of VRS with respect to existing standards, such as HGVS, SPDI, and VCF, see
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:ref:`relationships`.

schema/vrs/def/Adjacency.rst

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- string
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- 0..1
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- 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.
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* - label
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* - name
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- string
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- A free-text description of the Entity.
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* - alternativeLabels
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* - aliases
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schema/vrs/def/Allele.rst

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- string
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- 0..1
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- 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.
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schema/vrs/def/CisPhasedBlock.rst

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- string
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- 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.
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schema/vrs/def/CopyNumberChange.rst

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- string
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- 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.
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schema/vrs/def/CopyNumberCount.rst

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- string
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- 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.
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schema/vrs/def/DerivativeMolecule.rst

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- string
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schema/vrs/def/Ga4ghIdentifiableObject.rst

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- string
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schema/vrs/def/LengthExpression.rst

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