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pytest | ||
python-jsonschema-objects>=0.4.0 | ||
jsonschema==3.2.0 | ||
jsonschema | ||
referencing | ||
ipython | ||
pyyaml | ||
ga4gh.gks.metaschema==0.3.0b1 | ||
ga4gh.gks.metaschema==0.3.0b4 | ||
sphinx ~= 7.2 | ||
sphinx-rtd-theme ~= 1.2 |
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build/ |
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.PHONY: defs FORCE | ||
.SECONDARY: | ||
.SUFFIXES: | ||
.DELETE_ON_ERROR: | ||
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JSYAMLS:=vrs.yaml | ||
JSONS:=${JSYAMLS:.yaml=.json} | ||
BUILD_DIR := build | ||
IMPORT_DIR := import | ||
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all: ${JSONS} merged.json defs | ||
vpath %tag $(BUILD_DIR) | ||
vpath %.classes $(BUILD_DIR) | ||
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%.json: %.yaml | ||
jsy2js.py <$< >$@ | ||
SOURCES := $(wildcard *-source.yaml) | ||
TAGS := $(SOURCES:-source.yaml=.tag) | ||
IMPORTS := $(wildcard $(IMPORT_DIR)/*-source.yaml) | ||
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%.yaml: %-source.yaml | ||
source2jsy.py $< >$@ | ||
all: build-ordered ${TAGS} prune.tag | ||
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merged.yaml: vrs-source.yaml | ||
source2mergedjsy.py $< >$@ | ||
build-ordered: | $(BUILD_DIR) | ||
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defs: | ||
rm -rf defs | ||
y2t.py vrs-source.yaml | ||
ln -s ../../submodules/gks-common/schema/defs/gks.common defs/gks.common | ||
$(BUILD_DIR): | ||
mkdir $(BUILD_DIR) | ||
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%.tag: %.classes %.json-tag %.defs-tag | ||
touch $(BUILD_DIR)/$@ | ||
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watch: | ||
-while true; do ls -1 *.yaml | entr -dn make ${JSONS}; done | ||
%.classes: %-source.yaml | ||
source2classes.py $< >${BUILD_DIR}/$@ | ||
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%.json-tag: %-source.yaml ${IMPORTS} | ||
source2splitjs.py $< | ||
touch $(BUILD_DIR)/$@ | ||
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%.defs-tag: %-source.yaml ${IMPORTS} | ||
y2t.py $< | ||
touch $(BUILD_DIR)/$@ | ||
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prune.tag: ${TAGS} | ||
$(MAKE) -f prune.mk | ||
touch $(BUILD_DIR)/$@ | ||
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clean: | ||
rm $(BUILD_DIR)/* |
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**Computational Definition** | ||
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The `Adjacency` class can represent either the termination of a sequence or the adjoining of the end of a sequence with the beginning of an adjacent sequence, potentially with an intervening linker sequence. | ||
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**Information Model** | ||
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Some Adjacency attributes are inherited from :ref:`Variation`. | ||
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.. list-table:: | ||
:class: clean-wrap | ||
:header-rows: 1 | ||
:align: left | ||
:widths: auto | ||
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* - Field | ||
- Type | ||
- Limits | ||
- Description | ||
* - id | ||
- string | ||
- 0..1 | ||
- The 'logical' identifier of the entity in the system of record, e.g. a UUID. This 'id' is unique within a given system. The identified entity may have a different 'id' in a different system, or may refer to an 'id' for the shared concept in another system (e.g. a CURIE). | ||
* - label | ||
- string | ||
- 0..1 | ||
- A primary label for the entity. | ||
* - description | ||
- string | ||
- 0..1 | ||
- A free-text description of the entity. | ||
* - extensions | ||
- `Extension <import/gks-common/core.json#/$defs/Extension>`_ | ||
- 0..m | ||
- | ||
* - type | ||
- string | ||
- 0..1 | ||
- MUST be "Adjacency". | ||
* - digest | ||
- string | ||
- 0..1 | ||
- A sha512t24u digest created using the VRS Computed Identifier algorithm. | ||
* - expressions | ||
- :ref:`Expression` | ||
- 0..m | ||
- | ||
* - adjoinedSequences | ||
- `IRI.json <import/gks-common/json/IRI.json>`_ | :ref:`Location` | ||
- 1..2 | ||
- The terminal sequence or pair of adjoined sequences that defines in the adjacency. | ||
* - linker | ||
- :ref:`SequenceExpression` | ||
- 0..1 | ||
- The sequence found between adjoined sequences. |
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**Computational Definition** | ||
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The state of a molecule at a :ref:`Location`. | ||
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**Information Model** | ||
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Some Allele attributes are inherited from :ref:`Variation`. | ||
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.. list-table:: | ||
:class: clean-wrap | ||
:header-rows: 1 | ||
:align: left | ||
:widths: auto | ||
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||
* - Field | ||
- Type | ||
- Limits | ||
- Description | ||
* - id | ||
- string | ||
- 0..1 | ||
- 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 | ||
- string | ||
- 0..1 | ||
- A primary label for the entity. | ||
* - description | ||
- string | ||
- 0..1 | ||
- A free-text description of the entity. | ||
* - extensions | ||
- `Extension <import/gks-common/core.json#/$defs/Extension>`_ | ||
- 0..m | ||
- | ||
* - type | ||
- string | ||
- 0..1 | ||
- MUST be "Allele" | ||
* - digest | ||
- string | ||
- 0..1 | ||
- A sha512t24u digest created using the VRS Computed Identifier algorithm. | ||
* - expressions | ||
- :ref:`Expression` | ||
- 0..m | ||
- | ||
* - location | ||
- `IRI.json <import/gks-common/json/IRI.json>`_ | :ref:`Location` | ||
- 1..1 | ||
- The location of the Allele | ||
* - state | ||
- :ref:`SequenceExpression` | ||
- 1..1 | ||
- An expression of the sequence state |
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**Computational Definition** | ||
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A measure of the copies of a :ref:`Location` within a system (e.g. genome, cell, etc.) | ||
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**Information Model** | ||
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Some CopyNumber attributes are inherited from :ref:`Variation`. | ||
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.. list-table:: | ||
:class: clean-wrap | ||
:header-rows: 1 | ||
:align: left | ||
:widths: auto | ||
|
||
* - Field | ||
- Type | ||
- Limits | ||
- Description | ||
* - id | ||
- string | ||
- 0..1 | ||
- The 'logical' identifier of the entity in the system of record, e.g. a UUID. This 'id' is unique within a given system. The identified entity may have a different 'id' in a different system, or may refer to an 'id' for the shared concept in another system (e.g. a CURIE). | ||
* - label | ||
- string | ||
- 0..1 | ||
- A primary label for the entity. | ||
* - description | ||
- string | ||
- 0..1 | ||
- A free-text description of the entity. | ||
* - extensions | ||
- `Extension <import/gks-common/core.json#/$defs/Extension>`_ | ||
- 0..m | ||
- | ||
* - type | ||
- string | ||
- 0..1 | ||
- | ||
* - digest | ||
- string | ||
- 0..1 | ||
- A sha512t24u digest created using the VRS Computed Identifier algorithm. | ||
* - expressions | ||
- :ref:`Expression` | ||
- 0..m | ||
- | ||
* - location | ||
- `IRI.json <import/gks-common/json/IRI.json>`_ | :ref:`Location` | ||
- 1..1 | ||
- A location for which the number of systemic copies is described. |
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**Computational Definition** | ||
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An assessment of the copy number of a :ref:`Location` or a :ref:`Gene` within a system (e.g. genome, cell, etc.) relative to a baseline ploidy. | ||
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**Information Model** | ||
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Some CopyNumberChange attributes are inherited from :ref:`CopyNumber`. | ||
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.. list-table:: | ||
:class: clean-wrap | ||
:header-rows: 1 | ||
:align: left | ||
:widths: auto | ||
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||
* - Field | ||
- Type | ||
- Limits | ||
- Description | ||
* - id | ||
- string | ||
- 0..1 | ||
- 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 | ||
- string | ||
- 0..1 | ||
- A primary label for the entity. | ||
* - description | ||
- string | ||
- 0..1 | ||
- A free-text description of the entity. | ||
* - extensions | ||
- `Extension <import/gks-common/core.json#/$defs/Extension>`_ | ||
- 0..m | ||
- | ||
* - type | ||
- string | ||
- 0..1 | ||
- MUST be "CopyNumberChange" | ||
* - digest | ||
- string | ||
- 0..1 | ||
- A sha512t24u digest created using the VRS Computed Identifier algorithm. | ||
* - expressions | ||
- :ref:`Expression` | ||
- 0..m | ||
- | ||
* - location | ||
- `IRI.json <import/gks-common/json/IRI.json>`_ | :ref:`Location` | ||
- 1..1 | ||
- A location for which the number of systemic copies is described. | ||
* - copyChange | ||
- string | ||
- 1..1 | ||
- 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). |
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**Computational Definition** | ||
|
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The absolute count of discrete copies of a :ref:`Location` or :ref:`Gene`, within a system (e.g. genome, cell, etc.). | ||
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**Information Model** | ||
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Some CopyNumberCount attributes are inherited from :ref:`CopyNumber`. | ||
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.. list-table:: | ||
:class: clean-wrap | ||
:header-rows: 1 | ||
:align: left | ||
:widths: auto | ||
|
||
* - Field | ||
- Type | ||
- Limits | ||
- Description | ||
* - id | ||
- string | ||
- 0..1 | ||
- 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 | ||
- string | ||
- 0..1 | ||
- A primary label for the entity. | ||
* - description | ||
- string | ||
- 0..1 | ||
- A free-text description of the entity. | ||
* - extensions | ||
- `Extension <import/gks-common/core.json#/$defs/Extension>`_ | ||
- 0..m | ||
- | ||
* - type | ||
- string | ||
- 0..1 | ||
- MUST be "CopyNumberCount" | ||
* - digest | ||
- string | ||
- 0..1 | ||
- A sha512t24u digest created using the VRS Computed Identifier algorithm. | ||
* - expressions | ||
- :ref:`Expression` | ||
- 0..m | ||
- | ||
* - location | ||
- `IRI.json <import/gks-common/json/IRI.json>`_ | :ref:`Location` | ||
- 1..1 | ||
- A location for which the number of systemic copies is described. | ||
* - copies | ||
- integer | :ref:`Range` | ||
- 1..1 | ||
- The integral number of copies of the subject in a system |
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**Computational Definition** | ||
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Representation of a variation by a specified nomenclature or syntax for a Variation object. Common examples of expressions for the description of molecular variation include the HGVS and ISCN nomenclatures. | ||
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**Information Model** | ||
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.. list-table:: | ||
:class: clean-wrap | ||
:header-rows: 1 | ||
:align: left | ||
:widths: auto | ||
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* - Field | ||
- Type | ||
- Limits | ||
- Description | ||
* - syntax | ||
- string | ||
- 1..1 | ||
- | ||
* - value | ||
- string | ||
- 1..1 | ||
- | ||
* - syntax_version | ||
- string | ||
- 0..1 | ||
- |
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