Skip to content

Commit

Permalink
building quantiy change category
Browse files Browse the repository at this point in the history
  • Loading branch information
DanielPuthawala committed Mar 27, 2024
1 parent 5ff2922 commit ee4062c
Show file tree
Hide file tree
Showing 4 changed files with 178 additions and 2 deletions.
4 changes: 2 additions & 2 deletions docs/source/getting_involved.rst
Original file line number Diff line number Diff line change
Expand Up @@ -7,9 +7,9 @@ Cat-VRS is driven by community involvement. This product is early in development
can get involved:


* `Join the group in GA4GH to get regular updates on our progress.<https://www.ga4gh.org/get-involved/join-our-community/join/>`_
* `Join the group in GA4GH to get regular updates on our progress. <https://www.ga4gh.org/get-involved/join-our-community/join/>`_

* Twice-monthly meetings. The schedule for the next meeting can be found `on the CatVar website in GA4GH.<https://www.ga4gh.org/product/categorical-variation-catvar/>`_ Scroll to the bottom and click on "Meetings" Currently the Categorical Variation Working Group meets every month on the 1st Wednesday from 20:00-21:00 UTC and the 3rd Tuesday from 13:00 - 14:00 UTC, to allow for participation from collaborators across the globe.
* Twice-monthly meetings. The schedule for the next meeting can be found `on the CatVar website in GA4GH. <https://www.ga4gh.org/product/categorical-variation-catvar/>`_ Scroll to the bottom and click on "Meetings" Currently the Categorical Variation Working Group meets every month on the 1st Wednesday from 20:00-21:00 UTC and the 3rd Tuesday from 13:00 - 14:00 UTC, to allow for participation from collaborators across the globe.

* Slack `#GKS-categorical-variation channel. <https://ga4gh.slack.com/archives/C05UKK8DML7>`_

Expand Down
116 changes: 116 additions & 0 deletions schema/catvrs/catvrs-source.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -174,6 +174,122 @@ $defs:
required:
- label

# QuantityChange:
# maturity: draft
# type: object
# inherits: CategoricalVariation
# description: >-
# The Quantity Change class captures one axis of variation in the generalized model of categorical
# variation. It is used to model quantitative measure changes in a given biological level of
# variation.
# properties:
# type:
# type: string
# const: QuantityChange
# default: QuantityChange
# description: 'MUST be "QuantityChange"'
# label:
# extends: label
# description: >-
# A primary label for the categorical variation. This required property should provide a
# short and descriptive textual representation of the concept.
# description:
# extends: description
# description: >-
# A textual description of the domain of variation that should match the categorical
# variation entity.
# locationMatchCharacteristic:
# type: string
# enum: ['exact', 'partial', 'subinterval', 'superinterval']
# description: >-
# The characteristics of a valid match between a contextual CNV location (the query) and the
# Categorical CNV location (the domain), when both query and domain are represented on the same
# reference sequence. An `exact` match requires the location of the query and domain to be identical.
# A `subinterval` match requires the query to be a subinterval of the domain. A `superinterval` match
# requires the query to be a superinterval of the domain. A `partial` match requires at least 1 residue
# of overlap between the query and domain.
# copyChange:
# type: string
# enum: [ "efo:0030069", "efo:0020073", "efo:0030068", "efo:0030067", "efo:0030064", "efo:0030070", "efo:0030071", "efo:0030072" ]
# description: >-
# A representation of the change in copies of a sequence in a system. MUST be one of "efo:0030069" (complete
# genomic loss), "efo:0020073" (high-level loss), "efo:0030068" (low-level loss), "efo:0030067" (loss),
# "efo:0030064" (regional base ploidy), "efo:0030070" (gain), "efo:0030071" (low-level gain), "efo:0030072"
# (high-level gain).
# copies:
# oneOf:
# - type: integer
# - $refCurie: vrs:Range
# description: >-
# The integral number of copies of the subject in a system.
# required:
# - label

NumberCount:
maturity: draft
ga4ghDigest:
keys:
- copies
type: object
description: >-
The absolute count of a discrete assayable unit (e.g. chromosome, gene, or sequence).
properties:
type:
type: string
const: "NumberCount"
default: "NumberCount"
description: >-
MUST be "NumberCount"
copies:
oneOf:
- type: integer
- $refCurie: vrs:Range
description: >-
The integral quantity of the subject in a system
required: [ "copies" ]





# # Categorical Variation is presented top-down. Everything rolls up to
# # CategoricalVariant, is composed of one or several level variants,
# # each of which is in turn associated with a biological level of
# # variation, and relevant properties to intensionally define set
# # membership.

# # =============================================================================
# # Top-level Categorical Variation concepts
# # =============================================================================

# CategoricalVariant:
# inherits: gks.core:DomainEntity
# description: >-
# A top-level representation of a categorically-defined domain for variation across one or multiple biological levels in which individual contextual variants may be members of the domain.
# properties:
# id:
# type: string
# description: >-
# The 'logical' identifier of the entity in the system of record, e.g. a UUID. This 'id' is
# unique within a given system. The identified entity may have a different 'id' in a different
# system, or may refer to an 'id' for the shared concept in another system (e.g. a CURIE).
# label:
# type: string
# description: A primary label for the entity.
# description:
# type: string
# description: A free-text description of the entity.
# extensions:
# type: array
# ordered: true
# items:
# - $refExtension: gks.core:Extension






# CanonicalLocation:
# inherits: Constraint
# type: object
Expand Down
24 changes: 24 additions & 0 deletions schema/catvrs/def/NumberCount.rst
Original file line number Diff line number Diff line change
@@ -0,0 +1,24 @@
**Computational Definition**

The absolute count of a discrete assayable unit (e.g. chromosome, gene, or sequence).

**Information Model**

.. list-table::
:class: clean-wrap
:header-rows: 1
:align: left
:widths: auto

* - Field
- Type
- Limits
- Description
* - type
- string
- 0..1
- MUST be "NumberCount"
* - copies
- integer | `Range <../vrs/vrs.yaml#/$defs/Range>`_
- 1..1
- The integral quantity of the subject in a system
36 changes: 36 additions & 0 deletions schema/catvrs/json/NumberCount
Original file line number Diff line number Diff line change
@@ -0,0 +1,36 @@
{
"$schema": "https://json-schema.org/draft/2020-12/schema",
"$id": "https://w3id.org/ga4gh/schema/catvrs/1.x/json/NumberCount",
"title": "NumberCount",
"type": "object",
"maturity": "draft",
"ga4ghDigest": {
"keys": [
"copies"
]
},
"description": "The absolute count of a discrete assayable unit (e.g. chromosome, gene, or sequence).",
"properties": {
"type": {
"type": "string",
"const": "NumberCount",
"default": "NumberCount",
"description": "MUST be \"NumberCount\""
},
"copies": {
"oneOf": [
{
"$ref": "/ga4gh/schema/vrs/2.x/json/Range"
},
{
"type": "integer"
}
],
"description": "The integral quantity of the subject in a system"
}
},
"required": [
"copies"
],
"additionalProperties": false
}

0 comments on commit ee4062c

Please sign in to comment.