-
Notifications
You must be signed in to change notification settings - Fork 36
Commit
This commit does not belong to any branch on this repository, and may belong to a fork outside of the repository.
Merge pull request #455 from ga4gh/doc
add mm process and reorg data types
- Loading branch information
Showing
16 changed files
with
1,006 additions
and
1,646 deletions.
There are no files selected for viewing
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,90 @@ | ||
VRS Base Types | ||
@@@@@@@@@@@@@@ | ||
|
||
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 |
Oops, something went wrong.