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Merge pull request #455 from ga4gh/doc
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add mm process and reorg data types
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larrybabb authored Dec 15, 2023
2 parents 4ec56e4 + 294a7e9 commit a8a758c
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2 changes: 1 addition & 1 deletion docs/source/appendices/associating_annotations.rst
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.. _associating_annotations:

Associating Annotations with VRS Objects
(Rewrite) Associating Annotations with VRS Objects
========================================

Information is never embedded within VRS objects. Instead, it is
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17 changes: 1 addition & 16 deletions docs/source/appendices/design_decisions.rst
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.. _dd-not-using-external-chromosome-declarations:

Not using External Chromosome Declarations
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In :ref:`ChromosomeLocation <chromosomelocation>`, the tuple <species,chromosome name>
refers an archetypal chromosome for the species. `WikiData
<https://www.wikidata.org/>`_ and `MeSH
<https://www.ncbi.nlm.nih.gov/mesh/>`_ provide such definitions (e.g.,
Human Chr 1 at `WikiData <https://www.wikidata.org/wiki/Q430258>`__
and `MeSH <https://meshb.nlm.nih.gov/record/ui?ui=D002878>`__) and
were considered, and rejected, for use in VRS. Both ontologies were
anticipated to increase complexity that was not justified by the
benefit to VRS. In addition, data in WikiData are crowd-sourced and
therefore potentially unstable, and the species coverage in MeSH was
insufficient for anticipated VRS uses.

90 changes: 90 additions & 0 deletions docs/source/datatypes_classes/base_types.rst
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VRS Base Types
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The VRS Base Types are a set of classes that can be used to create
VRS data classes that can be used to represent variation and location
data. It uses core elements of the GKS Common as a foundation.

.. _Entity:

.. include:: ../defs/gks.common/Entity.rst

Entity
######

.. _ValueObject:

ValueObject
###########

.. include:: ../defs/vrs/ValueObject.rst

Ga4ghIdentifiableObject
#######################

.. include:: ../defs/vrs/Ga4ghIdentifiableObject.rst

.. _Location:

Location
########

As used by biologists, the precision of "location" (or "locus") varies
widely, ranging from precise start and end numerical coordinates
defining a Location, to bounded regions of a sequence, to conceptual
references to named genomic features (e.g., chromosomal bands, genes,
exons) as proxies for the Locations on an implied reference sequence.

The most common and concrete Location is a :ref:`SequenceLocation`, i.e.,
a Location based on a named sequence and an Interval on that sequence. Other
types of Location may be added based on community need.

.. include:: ../defs/vrs/Location.rst

**Implementation Guidance**

* Location refers to a position. Although it MAY imply a sequence,
the two concepts are not interchangeable, especially when the
location is non-specific (e.g., specified one or more ambiguous endpoints).
To represent a sequence derived from a Location, see
:ref:`SequenceExpression`.


.. _Variation:

Variation
#########

In the genetics community, variation is often used to mean *sequence*
variation, describing the differences observed in DNA or AA bases among
individuals, and typically with respect to a common reference sequence.

In VRS, the Variation class is the conceptual root of all types of biomolecular
variation, and the *Variation* abstract class is the top-level object in
the :ref:`vr-schema-diagram`. Variation types are broadly categorized as
:ref:`MolecularVariation`, :ref:`SystemicVariation`, or a :ref:`utility
subclass <utilityvariation>`. Types of variation are widely varied, and
there are several :ref:`planned-variation` currently under consideration
to capture this diversity.

.. include:: ../defs/vrs/Variation.rst

.. _MolecularVariation:

Molecular Variation
$$$$$$$$$$$$$$$$$$$

.. include:: ../defs/vrs/MolecularVariation.rst

.. _SystemicVariation:

Systemic Variation
$$$$$$$$$$$$$$$$$$

.. include:: ../defs/vrs/SystemicVariation.rst


CopyNumber
##########

.. include:: ../defs/vrs/CopyNumber.rst
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