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6640701
Added ethnicity genetic diversity fields
arschat Feb 20, 2025
1615c72
Added language genetic diversity fields
arschat Feb 20, 2025
7dd118b
Added residence and place of birth genetic diversity fields
arschat Feb 20, 2025
f75abbd
Added dietary state fields
arschat Feb 20, 2025
d56461e
Added reproduction genetic diversity fields
arschat Feb 20, 2025
3b37ae4
Removed trailing whitespaces
arschat Feb 20, 2025
7049d18
Ran human_readable_json.py script
arschat Feb 20, 2025
836c795
Updated update_log.csv
arschat Feb 20, 2025
078808e
Added diet_meat in place of dietary_state
arschat Feb 21, 2025
af5cc71
Merge branch 'staging' of github.com:HumanCellAtlas/metadata-schema i…
arschat Apr 8, 2025
b47e9d0
Merge branch 'staging' of github.com:HumanCellAtlas/metadata-schema i…
arschat May 12, 2025
697794d
Fixed diet_meat_consumption field name
arschat May 12, 2025
9e47276
Added dependency for ethnicity_question field.
arschat May 12, 2025
0773d49
Added ancestry genetic fields.
arschat May 12, 2025
e6eae2d
Replaced special characters in ethnicity_question.
arschat May 13, 2025
ad34acf
Removed ancestry_genetic fields to be added in Liver
arschat May 13, 2025
19c68b3
Updated place_of_birth_duration definition
arschat May 14, 2025
e359985
Removed ancestry_genetic dependecies.
arschat May 14, 2025
e25686d
Updated examples in genetic diversity values
arschat May 14, 2025
a16c5e4
Replaced special character in diet description
arschat Jun 2, 2025
32d999a
Added residence module in human_specific
arschat Jun 2, 2025
6717c3c
Updated update_log.csv
arschat Jun 3, 2025
dc1ef4e
Added reproduction_history module
arschat Jun 3, 2025
a9056e0
Removed unnecessary space
arschat Jun 4, 2025
e8f4a70
Fixed names of new modules
arschat Jun 4, 2025
d9bcedc
Added user friendly name for reproduction_history
arschat Jun 18, 2025
e60820b
Rename reproductive_history module
arschat Jul 9, 2025
5f4b27f
Added INSDC country enum and region field
arschat Oct 17, 2025
cbca404
Renamed fields to ethnicity_of_parents and to language_of_family in h…
arschat Oct 17, 2025
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17 changes: 17 additions & 0 deletions docs/jsonBrowser/module.md
Original file line number Diff line number Diff line change
Expand Up @@ -432,6 +432,18 @@ Property name | Description | Type | Required? | Object reference? | User friend
--- | --- | --- | --- | --- | --- | --- | ---
body_mass_index | The body mass index of the donor. | number | no | | Body mass index | | 36.4
ethnicity | Ethnicity of the donor. | array | no | [See module ethnicity_ontology](module.md#ethnicity-ontology) | Ethnicity | |
ethnicity_question | Question and response options posed to donors for collecting metadata on donor self-reported ethnicity and / or tribe and / or dialect group and / or race etc. | string | no | | Ethnicity question | | What is your ethnicity?; Are you Hispanic/Latino?; Which categories describe you? Select all that apply. Note You may select more than one group. 1. American Indian or Alaska Native (for example, Aztec, Blackfeet Tribe, Mayan, Navajo Nation, Native Village of Barrow (Utqiagvik) Inupiat Traditional Government, Nome Eskimo Community, etc.), 2 - Asian (for example, Asian Indian, Chinese, Filipino, Japanese, Korean, Vietnamese, etc.), 3 - Black, African American, or African (for example, African American, Ethiopian, Haitian, Jamaican, Nigerian, Somali, etc.), 4 - Hispanic, Latino, or Spanish (for example, Columbian, Cuban, Dominican, Mexican or Mexican American, Puerto Rican, Salvadoran, etc.), 5 - Middle Eastern or North African (for example, Algerian, Egyptian, Iranian, Lebanese, Moroccan, Syrian, etc.), 6 - Native Hawaiian or other Pacific Islander (for example, Chamorro, Fijian, Marshallese, Native Hawaiian, Tongan, etc.), 7 - White (for example, English, European, French, German, Irish, Italian, Polish, etc.), 8 - None of these fully describe me (optional free text answer), 9 - Prefer not to answer
ethnicity_parents | Ethnicity(-ies) of the donor's parents. | array | no | [See module ethnicity_ontology](module.md#ethnicity-ontology) | Parents ethnicity | |
primary_language | Primary language(s), spoken by donor. Can include dialects (for example, Hokkien). | array | no | | Donor primary language | | Mandarin Chinese; Hokkien; Bahasa Melayu
mother_father_language | Ancestral language(s), spoken by parents (“mother tongue” and / or “father tongue”) and / or grandparents. Can include dialects (for example, Hokkien). | array | no | | Mother/ Father Tongue | | Mandarin Chinese; Hokkien; Bahasa Melayu
current_residence_location_country | Country and state of donor's current residence at time of sample collection. | string | no | | Country of current residence | | Singapore; United Kingdom; Massachusetts USA; New South Wales Australia; Nassau Bahamas
current_residence_location_granular | Nearest city, town, or village to location of donor's current residence at time of sample collection. | string | no | | Location of current residence | | Singapore; Cambridge; Boston; Kingston
current_residence_duration | Duration of residence, in years, rounded up to the nearest whole number, at time of sample collection. | string | no | | Duration of current residence | | 20; 45-65
current_residence_urbanrural | Urban, suburban, or rural descriptor of current residence. | string | no | | Area type of current residence | urban, suburban, rural | urban; suburban; rural
place_of_birth_location_country | Country and state of place of birth. | string | no | | Country of birth | | Singapore; United Kingdom; Massachusetts USA; New South Wales Australia; Nassau Bahamas
place_of_birth_location_granular | Nearest city, town, or village to location of place of birth. | string | no | | Location of birth | | Singapore; Cambridge; Boston; Kingston
place_of_birth_duration | Duration of residence in the place of birth, in years, rounded up to the nearest whole number. | string | no | | Duration in place of birth | | 20; 45-65
place_of_birth_urbanrural | Urban, suburban, or rural descriptor of place of birth. | string | no | | Area type of place of birth | urban, suburban, rural | urban; suburban; rural

## Growth conditions<a name='Growth conditions'></a>
_Information relating to how a biomaterial was grown and/or maintained in a laboratory setting._
Expand Down Expand Up @@ -558,6 +570,11 @@ smoking_status | Whether the individual is actively, was formerly or never consu
smoking_pack_years | Estimated number of packs (20 cigarettes) smoked per day multiplied by the number of years the individual was smoking. | number | no | | Smoking pack years | | 4.55
years_since_smoking_cessation | If smoking status is 'former', specify the number of years since smoking cessation. | integer | no | | Years since smoking cessation | | 12
nutritional_state | Nutritional state of individual at time of biomaterial collection. | string | no | | Nutritional state | normal, fasting, feeding tube removed | Should be one of: normal, fasting, or feeding tube removed.
diet_meat_consumption | Dietary patterns of donor – meat (chicken, seafood, fish, pork, lamb, beef, etc.) consumption versus meat-free diet – at time of sample collection. Fill yes if donor consumes meat or no if donor does not consumes meat. | boolean | no | | Meat consumption | | Should be one of: yes; no.
menarche_age | Age at menarche, rounded to nearest whole number. | integer | no | | Menarche age | | 10; 11;, 15
menopause_status | Menopausal status of donor at time of sample collection. | string | no | | Menopause status | pre-menopausal, peri-menopausal, post-menopausal, post-menopausal (induced) | pre-menopausal; peri-menopausal; post-menopausal; post-menopausal (induced)
parity | Number of children (full-term pregnancies) the donor has given birth to at time of sample collection. | integer | no | | Pregnancy - parity | | 0; 3, 7
gravidity | Number of pregnancies the donor has had at time of sample collection. | integer | no | | Pregnancy - gravidity | | 0; 3, 7
test_results | Results from medical tests performed on the individual. | string | no | | Test results | | lipid panel shows normal level of LDL (124 mg/dL); HIV, HBV, HCV: Negative
treatment | Treatments the individual has undergone prior to biomaterial collection. | string | no | | Treatments | | Patient treated with antibiotics for a urinary tract infection; Patient treated with chemotherapy (Epirubicin, cisplatin, capecitabine) to treat stomach cancer

Expand Down
116 changes: 116 additions & 0 deletions json_schema/module/biomaterial/human_specific.json
Original file line number Diff line number Diff line change
Expand Up @@ -2,6 +2,11 @@
"$schema": "http://json-schema.org/draft-07/schema#",
"description": "Information specific to a donor that is a human (Homo sapiens).",
"additionalProperties": false,
"dependencies": {
"ethnicity_question": [
"ethnicity"
]
},
"title": "Human-specific",
"name": "human_specific",
"type": "object",
Expand Down Expand Up @@ -33,6 +38,117 @@
},
"user_friendly": "Ethnicity",
"guidelines": "Enter one or more ethnicities, separated by a comma."
},
"ethnicity_question": {
"description": "Question and response options posed to donors for collecting metadata on donor self-reported ethnicity and / or tribe and / or dialect group and / or race etc.",
"type": "string",
"user_friendly": "Ethnicity question",
"example": "What is your ethnicity?; Are you Hispanic/Latino?; Which categories describe you? Select all that apply. Note You may select more than one group. 1. American Indian or Alaska Native (for example, Aztec, Blackfeet Tribe, Mayan, Navajo Nation, Native Village of Barrow (Utqiagvik) Inupiat Traditional Government, Nome Eskimo Community, etc.), 2 - Asian (for example, Asian Indian, Chinese, Filipino, Japanese, Korean, Vietnamese, etc.), 3 - Black, African American, or African (for example, African American, Ethiopian, Haitian, Jamaican, Nigerian, Somali, etc.), 4 - Hispanic, Latino, or Spanish (for example, Columbian, Cuban, Dominican, Mexican or Mexican American, Puerto Rican, Salvadoran, etc.), 5 - Middle Eastern or North African (for example, Algerian, Egyptian, Iranian, Lebanese, Moroccan, Syrian, etc.), 6 - Native Hawaiian or other Pacific Islander (for example, Chamorro, Fijian, Marshallese, Native Hawaiian, Tongan, etc.), 7 - White (for example, English, European, French, German, Irish, Italian, Polish, etc.), 8 - None of these fully describe me (optional free text answer), 9 - Prefer not to answer",
"bionetworks": ["genetic diversity"]
},
"ethnicity_parents": {
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Suggested change
"ethnicity_parents": {
"parental_ethnicities": {

Just a suggestion

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Or, in line with my comment below

Suggested change
"ethnicity_parents": {
"ethnicity_of_parents": {

"description": "Ethnicity(-ies) of the donor's parents.",
"type": "array",
"items": {
"$ref": "module/ontology/ethnicity_ontology.json"
},
"user_friendly": "Parents ethnicity",
"guidelines": "Enter one or more ethnicities, separated by a comma.",
"bionetworks": ["genetic diversity"]
},
"primary_language": {
"description": "Primary language(s), spoken by donor. Can include dialects (for example, Hokkien).",
"type": "array",
"items": {
"type": "string"
},
"user_friendly": "Donor primary language",
"example": "Mandarin Chinese; Hokkien; Bahasa Melayu",
"bionetworks": ["genetic diversity"]
},
"mother_father_language": {
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Suggested change
"mother_father_language": {
"first_language": {

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According to the Taskforce guidelines, this is about the language that the donor parents speak. Not necessarily the first language the donor spoke.
Maybe we could revert to parents_language to distinguish between "first language" and "language of mother".

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In this PR, this field is currently documented as

Ancestral language(s), spoken by parents (“mother tongue” and / or “father tongue”) and / or grandparents. Can include dialects (for example, Hokkien).

"Mother tongue" typically means one's native language, not the language spoken by one's mother. To avoid confusion, I would prefer we avoid the terms "mother/father tongue" completely. "Ancestral language" usually means the opposite of modern language. I would also avoid that.

As for the name of the property, I propose that we establish a convention for naming properties of immediate ancestors (parents) or ancestors in general. Prefixing the property name with parental_ or ancestral_ comes to mind but then the aforementioned ambiguity arises. Since it is not possible to include an apostrophe in a property name, I wouldn't use "parents_" as that could be the plural "parents" or a possessive "parent's".

My preferred choice would be the suffix "_of_parents" and "_of_ancestors", applied to all such properties across this PR. I would include great grand parents in this property as it seems arbitrary to draw the line above the grand parents.

"description": "Ancestral language(s), spoken by parents (“mother tongue” and / or “father tongue”) and / or grandparents. Can include dialects (for example, Hokkien).",
"type": "array",
"items": {
"type": "string"
},
"user_friendly": "Mother/ Father Tongue",
"example": "Mandarin Chinese; Hokkien; Bahasa Melayu",
"bionetworks": ["genetic diversity"]
},
"current_residence_location_country": {
"description": "Country and state of donor's current residence at time of sample collection.",
"type": "string",
"user_friendly": "Country of current residence",
"example": "Singapore; United Kingdom; Massachusetts USA; New South Wales Australia; Bauchi State; Nigeria",
"guidelines": "Enter the country and state if available.",
"bionetworks": ["genetic diversity"]
},
"current_residence_location_granular": {
"description": "Nearest city, town, or village to location of donor's current residence at time of sample collection.",
"type": "string",
"user_friendly": "Location of current residence",
"example": "Singapore; Cambridge; Boston; Kingston",
"bionetworks": ["genetic diversity"]
},
"current_residence_duration": {
"description": "Duration of residence, in years, rounded up to the nearest whole number, at time of sample collection.",
"type": "string",
"pattern": "^[0-9]+-?[0-9]*$",
"user_friendly": "Duration of current residence",
"example": "20; 37; 45-65",
"guidelines": "Enter either a single value or a range of values. Indicate a range using a hyphen.",
"bionetworks": ["genetic diversity"]
},
"current_residence_urbanrural": {
"description": "Urban, suburban, or rural descriptor of current residence.",
"type": "string",
"enum": [
"urban",
"suburban",
"rural"
],
"user_friendly": "Area type of current residence",
"example": "urban; suburban; rural",
"guidelines": "Should be one of: urban; suburban; rural",
"bionetworks": ["genetic diversity"]
},
"place_of_birth_location_country": {
"description": "Country and state of place of birth.",
"type": "string",
"user_friendly": "Country of birth",
"example": "Singapore; United Kingdom; Massachusetts USA; New South Wales Australia; Bauchi State; Nigeria",
"guidelines": "Enter the country and state if available.",
"bionetworks": ["genetic diversity"]
},
"place_of_birth_location_granular": {
"description": "Nearest city, town, or village to location of place of birth.",
"type": "string",
"user_friendly": "Location of birth",
"example": "Singapore; Cambridge; Boston; Kingston",
"bionetworks": ["genetic diversity"]
},
"place_of_birth_duration": {
"description": "Duration of residence in the place of birth, in years, rounded up to the nearest whole number.",
"type": "string",
"pattern": "^[0-9]+-?[0-9]*$",
"user_friendly": "Duration in place of birth",
"example": "20; 37; 45-65",
"guidelines": "Enter either a single value or a range of values. Indicate a range using a hyphen.",
"bionetworks": ["genetic diversity"]
},
"place_of_birth_urbanrural": {
"description": "Urban, suburban, or rural descriptor of place of birth.",
"type": "string",
"enum": [
"urban",
"suburban",
"rural"
],
"user_friendly": "Area type of place of birth",
"example": "urban; suburban; rural",
"guidelines": "Should be one of: urban; suburban; rural",
"bionetworks": ["genetic diversity"]
}
}
}
70 changes: 56 additions & 14 deletions json_schema/module/biomaterial/medical_history.json
Original file line number Diff line number Diff line change
Expand Up @@ -68,6 +68,48 @@
"user_friendly": "Nutritional state",
"example": "Should be one of: normal, fasting, or feeding tube removed."
},
"diet_meat_consumption": {
"description": "Dietary patterns of donor – meat (chicken, seafood, fish, pork, lamb, beef, etc.) consumption versus meat-free diet – at time of sample collection. Fill yes if donor consumes meat or no if donor does not consumes meat.",
"type": "boolean",
"user_friendly": "Meat consumption",
"example": "Should be one of: yes; no.",
"bionetworks": ["genetic diversity"]
},
"menarche_age": {
"description": "Age at menarche, rounded to nearest whole number.",
"type": "integer",
"user_friendly": "Menarche age",
"example": "13; 12; 16",
"bionetworks": ["genetic diversity"]
},
"menopause_status": {
"description": "Menopausal status of donor at time of sample collection.",
"type": "string",
"enum": [
"pre-menopausal",
"peri-menopausal",
"post-menopausal",
"post-menopausal (induced)"
],
"user_friendly": "Menopause status",
"example": "pre-menopausal; peri-menopausal; post-menopausal; post-menopausal (induced)",
"guidelines": "Should be one of: pre-menopausal; peri-menopausal; post-menopausal; post-menopausal (induced)",
"bionetworks": ["genetic diversity"]
},
"parity": {
"description": "Number of children (full-term pregnancies) the donor has given birth to at time of sample collection.",
"type": "integer",
"user_friendly": "Pregnancy - parity",
"example": "0; 2; 3",
"bionetworks": ["genetic diversity"]
},
"gravidity": {
"description": "Number of pregnancies the donor has had at time of sample collection.",
"type": "integer",
"user_friendly": "Pregnancy - gravidity",
"example": "2; 3; 5",
"bionetworks": ["genetic diversity"]
},
"test_results": {
"description": "Results from medical tests performed on the individual.",
"type": "string",
Expand All @@ -81,39 +123,39 @@
"example": "Patient treated with antibiotics for a urinary tract infection; Patient treated with chemotherapy (Epirubicin, cisplatin, capecitabine) to treat stomach cancer"
}
},
"allOf":
"allOf":
[
{
"if": {
"properties": {
"properties": {
"smoking_status": {
"const": "active"
}
"const": "active"
}
}
},
"then": {
"properties": {
"years_since_smoking_cessation": {
"maximum": 0
"years_since_smoking_cessation": {
"maximum": 0
}
}
}
},
{
"if": {
"properties": {
"smoking_status": {
"const": "never"
}
"properties": {
"smoking_status": {
"const": "never"
}
}
},
"then": {
"properties": {
"years_since_smoking_cessation": {
"type": "null"
"years_since_smoking_cessation": {
"type": "null"
},
"smoking_pack_years": {
"maximum": 0
"smoking_pack_years": {
"maximum": 0
}
}
}
Expand Down
17 changes: 17 additions & 0 deletions json_schema/update_log.csv
Original file line number Diff line number Diff line change
@@ -1 +1,18 @@
Schema,Change type,Change message,Version,Date
module/biomaterial/human_specific,minor,Added optional ethnicity_question,,
module/biomaterial/human_specific,minor,Added optional ethnicity_parents,,
module/biomaterial/human_specific,minor,Added optional primary_language,,
module/biomaterial/human_specific,minor,Added optional mother_father_language,,
module/biomaterial/human_specific,minor,Added optional current_residence_location_country,,
module/biomaterial/human_specific,minor,Added optional current_residence_location_granular,,
module/biomaterial/human_specific,minor,Added optional current_residence_duration,,
module/biomaterial/human_specific,minor,Added optional current_residence_urbanrural,,
module/biomaterial/human_specific,minor,Added optional place_of_birth_location_country,,
module/biomaterial/human_specific,minor,Added optional place_of_birth_location_granular,,
module/biomaterial/human_specific,minor,Added optional place_of_birth_duration,,
module/biomaterial/human_specific,minor,Added optional place_of_birth_urbanrural,,
module/biomaterial/medical_history,minor,Added optional diet_meat_consumption,,
module/biomaterial/medical_history,minor,Added optional menarche_age,,
module/biomaterial/medical_history,minor,Added optional menopause_status,,
module/biomaterial/medical_history,minor,Added optional parity,,
module/biomaterial/medical_history,minor,Added optional gravidity,,
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