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Merge pull request #88 from alliance-genome/da_updates
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Minor disease annotation updates
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sierra-moxon authored Feb 22, 2022
2 parents fdc73c4 + f46df1a commit 83b9799
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Showing 8 changed files with 20 additions and 29 deletions.
12 changes: 6 additions & 6 deletions model/schema/core.yaml
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Expand Up @@ -148,19 +148,19 @@ classes:
Note:
description: >-
Note object for capturing free-text describing some attribute of an entity,
coupled with a 'note type', private boolean, and an optional list of
coupled with a 'note type', internal boolean, and an optional list of
references.
slots:
- free_text
- note_type
- private
- internal
- references
slot_usage:
free_text:
required: true
note_type: # Permissible values currently: disease_summary, disease_note
required: true
private:
internal:
required: true

EntityStatement:
Expand Down Expand Up @@ -325,7 +325,7 @@ slots:
The type of note: e.g., cytology, comment, summary.
range: VocabularyTerm

private:
internal:
description: >-
Classifies the entity as private (for internal use) or not (for public use).
notes: >-
Expand Down Expand Up @@ -475,12 +475,12 @@ slots:

data_provider:
description: Organization (e.g. MOD) from which the data was sourced
multivalued: true
multivalued: false
range: string

secondary_data_provider:
description: Organization (e.g. MOD) that provided the data directly to the Alliance, but not the original source
multivalued: true
multivalued: false
range: string

association_slot:
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1 change: 1 addition & 0 deletions model/schema/phenotypeAndDiseaseAnnotation.yaml
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Expand Up @@ -501,6 +501,7 @@ slots:
range: Allele

disease_qualifiers:
multivalued: true
range: disease_annotation_qualifier_enum

genetic_sex:
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4 changes: 1 addition & 3 deletions test/data/disease_agm_test.json
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Expand Up @@ -5,9 +5,7 @@
"ECO:0000305"
],
"single_reference": "PMID:0012345",
"data_provider": [
"ZFIN"
],
"data_provider": "ZFIN",
"object": "DOID:9452",
"created_by": "ZFIN",
"modified_by": "ZFIN",
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2 changes: 1 addition & 1 deletion test/data/disease_allele_test.json
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Expand Up @@ -3,7 +3,7 @@
{
"evidence_codes": ["ECO:0000305"],
"single_reference": "PMID:0012345",
"data_provider": ["ZFIN"],
"data_provider": "ZFIN",
"subject": "ZFIN:ZDB-ALT-001122-1",
"predicate": "is_implicated_in",
"object": "DOID:0001234",
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2 changes: 1 addition & 1 deletion test/data/disease_gene_test.json
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Expand Up @@ -3,7 +3,7 @@
{
"evidence_codes": ["ECO:0000305"],
"single_reference": "PMID:0012345",
"data_provider": ["ZFIN"],
"data_provider": "ZFIN",
"object": "DOID:9452",
"created_by": "ZFIN",
"modified_by": "ZFIN",
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4 changes: 2 additions & 2 deletions test/data/fb_disease_test.json
Original file line number Diff line number Diff line change
Expand Up @@ -9,7 +9,7 @@
"single_reference": "FB:FBrf0227496",
"annotation_type": "manually_curated",
"inferred_gene": "FB:FBgn0000047",
"data_provider": ["FB"],
"data_provider": "FB",
"created_by": "FB:FB_curator",
"creation_date": "2022-01-12T09:57:42-05:00",
"modified_by": "FB:FB_curator",
Expand All @@ -25,7 +25,7 @@
"evidence_codes": ["ECO:0007013"],
"single_reference": "FB:FBrf0211153",
"annotation_type": "manually_curated",
"data_provider": ["FB"],
"data_provider": "FB",
"created_by": "FB:FB_curator",
"creation_date": "2022-01-12T09:57:42-05:00",
"modified_by": "FB:FB_curator",
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2 changes: 1 addition & 1 deletion test/data/invalid/disease_allele_invalid.json
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Expand Up @@ -5,7 +5,7 @@
"TAS"
],
"single_reference": "PMID:0012345",
"data_provider": "ZFIN",
"data_provider": ["ZFIN"],
"subjectTO": "ZFIN:ZDB-ALT-001122-1",
"predicate": "is model of",
"object": "DOID:0001234",
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22 changes: 7 additions & 15 deletions test/data/wb_disease_test.json
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Expand Up @@ -13,16 +13,14 @@
]
}
],
"data_provider": [
"WB"
],
"data_provider": "WB",
"created_by": "WB:WBPerson324",
"date_last_modified": "2021-09-01T00:00:00+00:00",
"related_notes": [
{
"free_text": "summary statement",
"note_type": "disease_summary",
"private": false
"internal": false
}
],
"evidence_codes": [
Expand Down Expand Up @@ -53,16 +51,14 @@
]
}
],
"data_provider": [
"WB"
],
"data_provider": "WB",
"created_by": "WB:WBPerson324",
"date_last_modified": "2021-08-24T00:00:00+00:00",
"related_notes": [
{
"free_text": "summary statement",
"note_type": "disease_summary",
"private": false
"internal": false
}
],
"disease_genetic_modifier": "WB:WBStrain00035193",
Expand All @@ -84,9 +80,7 @@
"disease_agm_ingest_set": [
{
"created_by": "WB:WBPerson324",
"data_provider": [
"WB"
],
"data_provider": "WB",
"date_last_modified": "2019-03-08T00:00:00+00:00",
"disease_genetic_modifier": "WB:WBVar00250993",
"disease_genetic_modifier_relation": "exacerbated_by",
Expand Down Expand Up @@ -121,15 +115,13 @@
}
],
"created_by": "WB:WBPerson324",
"data_provider": [
"WB"
],
"data_provider": "WB",
"date_last_modified": "2017-05-22T00:00:00+00:00",
"related_notes": [
{
"free_text": "Mutations in human dystrophin are associated with the Duchenne and Becker types of muscular dystrophy, that affect skeletal muscles used for movement, and heart (cardiac) muscle; the genetic model for progressive myopathy in C. elegans is a mutant of the elegans dystrophin ortholog, dys-1, combined with a mutation in hlh-1, the MyoD ortholog, (dys-1(cx18);hlh-1(cc561ts), these animals display time-dependent muscle degeneration; a screen of approximately 1000 compounds on the dys-1(cx18),hlh-1(cc561) model, identified several substances that ameliorated the dystrophic phenotype, with the top hits being the sulfonamides, methazolamide (MTZ) and dichlorphenamide (DCPM), known inhibitors of carbonic anydrase (CA) enymes; knock-down of the elegans CA ortholog, cah-4, via RNAi interference, significantly reduced muscle degeneration in the dys-1(cx18),hlh-1(cc561) strain; further, the effects of MTZ and DCPM have been validated in the mdx mouse model for Duchenne muscular dystrophy (DMD).",
"note_type": "disease_summary",
"private": false
"internal": false
}
],
"evidence_codes": [
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