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closes #564
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ahwagner committed Dec 16, 2024
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12 changes: 12 additions & 0 deletions docs/source/concepts/LocationAndReference/SequenceLocation.rst
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Expand Up @@ -57,6 +57,9 @@ 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 descriptive purposes only**, and not a substitute for the *sequenceReference*
property.

.. admonition:: New in v2

In VRS v1, sequence derived from the reference was not transmitted. This feature was added in VRS v2 due to
Expand Down Expand Up @@ -85,3 +88,12 @@ chromosome sequence to which it aligns. VRS intentionally does not allow for *st
that use an offset system to represent sequence not found on the :ref:`SequenceReference`.

.. TODO:: Describe and add a ref to an intronic variant profile

CisPhasedBlocks and the Inferred SequenceReference
##################################################

When a :ref:`SequenceReference` is provided in a :ref:`CisPhasedBlock`, it is defined that all member
:ref:`Allele` objects occur on that sequence. Consequently, `SequenceLocation` objects of those `Alleles`
do not need to populate the `SequenceReference` property. There may be other contexts where this optional
property may be omitted, but when this is done there SHOULD be a means of inferring the content of this
property (as is explicitly described in `CisPhasedBlock`).
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Expand Up @@ -16,17 +16,17 @@ such as the alphabet used (nucleic acid or amino acid), if the sequence represen
and labels used to describe the sequence.

Definition and Information Model
################################
@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@@

.. include:: ../../def/vrs/SequenceReference.rst

Example
#######
@@@@@@@

.. code-block:: json
{
"type": "SequenceReference",
"refgetAccession": "SQ.F-LrLMe1SRpfUZHkQmvkVKFEGaoDeHul",
"label": "NC_000007.14"
}
}

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