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Merge pull request #1579 from HumanCellAtlas/ac-disease-profile-modul…
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…e-Issue1578

Added disease_profile module to donor_organism. Fixes#1578
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arschat authored Sep 30, 2024
2 parents a56d682 + 57a8e3d commit 7614193
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8 changes: 8 additions & 0 deletions changelog.md
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Expand Up @@ -7,6 +7,14 @@ and (starting with v4.0.0) this project adheres to [Semantic Versioning](http://

## [Unreleased](https://github.com/HumanCellAtlas/metadata-schema/tree/staging)

### [module/biomaterial/disease_profile.json - v1.0.0] - 2024-09-30
### Added
Added new disease profile module with COPD fields. Fixes#1572

### [type/biomaterial/donor_organism.json - v16.3.0] - 2024-09-30
### Added
Added an optional disease profile field in the donor_organism. Fixes#1572

## [Released](https://github.com/HumanCellAtlas/metadata-schema/)

### [system/file_descriptor.json - v2.1.0] - 2024-09-24
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15 changes: 14 additions & 1 deletion docs/jsonBrowser/module.md
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Expand Up @@ -460,6 +460,20 @@ dlco_predicted_percent | Indicate the percentage of the predicted DLCO, based on
kco | Indicate the transfer coefficient of the lung for carbon monoxide (KCO) in mmol/min/kPa/L if available. | number | no | | KCO | | 5; 6; 4.5
kco_predicted_percent | Indicate the percentage of the predicted KCO, based on patient demographics, if available. | number | no | | KCO percent of predicted | | 90; 98; 85

## Disease profile<a name='Disease profile'></a>
_Information about specific diseases profile of the individual._

Location: module/biomaterial/disease_profile.json

Property name | Description | Type | Required? | Object reference? | User friendly name | Allowed values | Example
--- | --- | --- | --- | --- | --- | --- | ---
copd_gold_stage | Indicating current GOLD stage (Global Initiative for Chronic Obstructive Lung Disease). | integer | no | | GOLD stage | 1, 2, 3, 4 | 1; 2; 3; 4
copd_mmrc_grade | Indicate the Modified British Medical Research Council (mMRC) dyspnea scale grade. | integer | no | | mMRC grade | 0, 1, 2, 3, 4 | 0, 1; 2; 3; 4
copd_cat_score | Indicate the COPD Assessment Test (CAT) score. | integer | no | | CAT score | | 2; 5; 37
copd_gold_abe_assessment | Indicate the Global Initiative for Chronic Obstructive Lung Disease (GOLD) A, B, C, D assessment group if available. | string | no | | GOLD ABE assessment | A, B, E | A; B; E
copd_phenotype | Indicate the COPD disease phenotype(s) of donor. Please indicate all applicable phenotypes of donor. | array | no | | COPD phenotype | COPD not otherwise specified, COPD with emphysema, COPD with bronchitis, COPD with history of asthma, COPD with >300 eos in blood, COPD with allergy, COPD with Chronic Mucus Hypersecretion, COPD with frequent exacerbations | COPD with bronchitis; COPD with history of asthma; COPD with emphysema
copd_emphysema_percentage | Indicate the percentage of the lung that is affected by emphysema as judged based on non-invasive imaging, such as from a CT scan. | number | no | | Percentage of emphysema | | 30; 76; 92

## Preservation and storage<a name='Preservation and storage'></a>
_Information relating to how a biomaterial was preserved and/or stored over a period of time._

Expand Down Expand Up @@ -622,4 +636,3 @@ Property name | Description | Type | Required? | Object reference? | User friend
plate_label | A label or name for the plate on which the well is located. | string | yes | | Plate label | | 2217
well_label | A label or name for the well in which the cell is located. | string | no | | Well label | | A1
well_quality | Quality of well if imaged before sequencing. | string | no | | Well quality | OK, control, 2-cell well, control, empty well, low quality cell | Should be one of: 'OK', 'control, 2-cell well', 'control, empty well', or 'low quality cell'.

2 changes: 2 additions & 0 deletions docs/jsonBrowser/required_fields.md
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Expand Up @@ -352,6 +352,8 @@ _There are no required properties in schema Human-specific_
_There are no required properties in schema Growth conditions_
### Medical tests<a name='Medical tests'></a>
_There are no required properties in schema Medical tests_
### Disease profile<a name='Disease profile'></a>
_There are no required properties in schema Disease profile_
### Preservation and storage<a name='Preservation and storage'></a>
_There are no required properties in schema Preservation and storage_
### Death<a name='Death'></a>
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1 change: 1 addition & 0 deletions docs/jsonBrowser/type.md
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Expand Up @@ -434,6 +434,7 @@ diseases | Short description of known disease(s) of the organism. | array | no |
death | Information about conditions of death of the organism. | object | no | [See module death](module.md#death) | Death conditions | |
familial_relationships | Information about other organisms related to this organism. | array | no | [See module familial_relationship](module.md#familial-relationship) | Familial relationship | |
medical_tests | Information about the medical tests of the organism. | object | no | [See module medical_tests](module.md#medical-tests) | Medical tests | |
disease_profile | Information about specific diseases profile of the individual. | object | no | [See module disease_profile](module.md#disease-profile) | Disease profile | |
medical_history | Information about the medical history of the organism. | object | no | [See module medical_history](module.md#medical-history) | Medical history | |
gestational_age | Gestational age of pregnancy in Gestational age units measured from the last menstrual period. | string | no | | Gestational age | | 22; 8-9
gestational_age_unit | The unit in which Gestational age is expressed. | object | no | [See module time_unit_ontology](module.md#time-unit-ontology) | Gestational age unit | |
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82 changes: 82 additions & 0 deletions json_schema/module/biomaterial/disease_profile.json
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@@ -0,0 +1,82 @@
{
"$schema": "http://json-schema.org/draft-07/schema#",
"description": "Information about specific diseases profile of the individual.",
"additionalProperties": false,
"title": "Disease profile",
"name": "disease_profile",
"type": "object",
"minProperties": 1,
"properties": {
"describedBy": {
"description": "The URL reference to the schema.",
"type": "string",
"pattern" : "^(http|https)://schema.(.*?)humancellatlas.org/module/biomaterial/(([0-9]{1,}.[0-9]{1,}.[0-9]{1,})|([a-zA-Z]*?))/disease_profile"
},
"schema_version": {
"description": "The version number of the schema in major.minor.patch format.",
"type": "string",
"pattern": "^[0-9]{1,}.[0-9]{1,}.[0-9]{1,}$",
"example": "0.0.1"
},
"copd_gold_stage": {
"user_friendly": "GOLD stage",
"description": "Indicate the current GOLD stage (Global Initiative for Chronic Obstructive Lung Disease).",
"type": "integer",
"enum": [1, 2, 3, 4],
"example": "1; 2; 3; 4",
"bionetworks": ["lung"],
"guidelines": "Should be one of 1, 2, 3, 4"
},
"copd_mmrc_grade": {
"user_friendly": "mMRC grade",
"description": "Indicate the Modified British Medical Research Council (mMRC) dyspnea scale grade.",
"type": "integer",
"enum": [0, 1, 2, 3, 4],
"example": "0, 1; 2; 3; 4",
"bionetworks": ["lung"],
"guidelines": "Should be one of 0, 1, 2, 3, 4"
},
"copd_cat_score": {
"user_friendly": "CAT score",
"description": "Indicate the COPD Assessment Test (CAT) score.",
"type": "integer",
"minimum": 0,
"maximum": 40,
"example": "2; 5; 37",
"bionetworks": ["lung"],
"guidelines": "Should be between 0 and 40."
},
"copd_gold_abe_assessment": {
"user_friendly": "GOLD ABE assessment",
"description": "Indicate the Global Initiative for Chronic Obstructive Lung Disease (GOLD) A, B, C, D assessment group if available.",
"type": "string",
"enum": ["A", "B", "E"],
"example": "A; B; E",
"bionetworks": ["lung"],
"guidelines": "Should be one of A, B, E"

},
"copd_phenotype": {
"user_friendly": "COPD phenotype",
"description": "Indicate the COPD disease phenotype(s) of donor. Please indicate all applicable phenotypes of donor.",
"type": "array",
"items": {
"type": "string",
"enum": ["COPD not otherwise specified", "COPD with emphysema", "COPD with bronchitis",
"COPD with history of asthma", "COPD with >300 eos in blood", "COPD with allergy",
"COPD with Chronic Mucus Hypersecretion", "COPD with frequent exacerbations"]
},
"example": "COPD with bronchitis; COPD with history of asthma; COPD with emphysema",
"bionetworks": ["lung"],
"guidelines": "Should be one or more of: COPD not otherwise specified, COPD with emphysema, COPD with bronchitis, COPD with history of asthma, COPD with >300 eos in blood, COPD with allergy, COPD with Chronic Mucus Hypersecretion, COPD with frequent exacerbations"
},
"copd_emphysema_percentage": {
"user_friendly": "Percentage of emphysema",
"description": "Indicate the percentage of the lung that is affected by emphysema as judged based on non-invasive imaging, such as from a CT scan.",
"type": "number",
"maximum": 150,
"minimum": 0,
"bionetworks": ["lung"]
}
}
}
6 changes: 6 additions & 0 deletions json_schema/type/biomaterial/donor_organism.json
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Expand Up @@ -137,6 +137,12 @@
"$ref": "module/biomaterial/medical_tests.json",
"user_friendly": "Medical tests"
},
"disease_profile": {
"description": "Information about specific diseases profile of the individual.",
"type": "object",
"$ref": "module/biomaterial/disease_profile.json",
"user_friendly": "Disease profile"
},
"medical_history": {
"description": "Information about the medical history of the organism.",
"type": "object",
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7 changes: 4 additions & 3 deletions json_schema/versions.json
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@@ -1,5 +1,5 @@
{
"last_update_date": "2024-09-24T15:16:27Z",
"last_update_date": "2024-09-30T14:15:52Z",
"version_numbers": {
"core": {
"biomaterial": {
Expand All @@ -22,6 +22,7 @@
"biomaterial": {
"cell_morphology": "6.1.7",
"death": "5.5.1",
"disease_profile": "1.0.0",
"familial_relationship": "6.0.3",
"growth_conditions": "6.4.2",
"human_specific": "1.0.11",
Expand Down Expand Up @@ -92,7 +93,7 @@
"biomaterial": {
"cell_line": "16.0.0",
"cell_suspension": "14.0.0",
"donor_organism": "16.2.0",
"donor_organism": "16.3.0",
"imaged_specimen": "3.5.0",
"organoid": "11.5.0",
"specimen_from_organism": "10.9.0"
Expand Down Expand Up @@ -138,4 +139,4 @@
}
}
}
}
}

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