Skip to content
Open
Show file tree
Hide file tree
Changes from all commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
28 changes: 28 additions & 0 deletions generated/jsonschema/allianceModel.schema.json
Original file line number Diff line number Diff line change
Expand Up @@ -3308,6 +3308,20 @@
"description": "Classifies the entity as private (for internal use) or not (for public use).",
"type": "boolean"
},
"is_aberration": {
"description": "Indicates whether the allele is a chromosomal aberration, defined (per SO:1000183 - chromosome_structure_variation) as an alteration of the genome that leads to a change in the structure or number of one or more chromosomes.",
"type": [
"boolean",
"null"
]
},
"is_balancer": {
"description": "Indicates whether the allele is a balancer: a chromosomal rearrangement that suppresses recombination over a region of one or more chromosomes. Balancers are a subtype of aberration, so this is only applicable to alleles for which is_aberration is true.",
"type": [
"boolean",
"null"
]
},
"is_extinct": {
"description": "Does the allele still exist in a population somewhere?",
"type": [
Expand Down Expand Up @@ -4192,6 +4206,20 @@
"description": "Classifies the entity as private (for internal use) or not (for public use).",
"type": "boolean"
},
"is_aberration": {
"description": "Indicates whether the allele is a chromosomal aberration, defined (per SO:1000183 - chromosome_structure_variation) as an alteration of the genome that leads to a change in the structure or number of one or more chromosomes.",
"type": [
"boolean",
"null"
]
},
"is_balancer": {
"description": "Indicates whether the allele is a balancer: a chromosomal rearrangement that suppresses recombination over a region of one or more chromosomes. Balancers are a subtype of aberration, so this is only applicable to alleles for which is_aberration is true.",
"type": [
"boolean",
"null"
]
},
"is_extinct": {
"description": "Does the allele still exist in a population somewhere?",
"type": [
Expand Down
36 changes: 26 additions & 10 deletions model/schema/allele.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -61,6 +61,8 @@ classes:
- is_extinct
- is_extrachromosomal
- is_integrated
- is_aberration
- is_balancer
- transgene_chromosome_location
- allele_mutation_types
- allele_inheritance_modes
Expand All @@ -83,8 +85,6 @@ classes:
exact_mappings:
- SO:0001023
slot_usage:
aberration: # This slot is no longer declared in the Allele class; is this covered by something else? [CG]
notes: specific to FB
allele_symbol:
required: true
laboratory_of_origin:
Expand All @@ -93,6 +93,10 @@ classes:
required: false
is_integrated:
required: false
is_aberration:
required: false
is_balancer:
required: false
related_notes:
notes: note_type from VocabularyTermSet 'Allele Note Type'

Expand All @@ -109,6 +113,8 @@ classes:
- is_extinct
- is_extrachromosomal
- is_integrated
- is_aberration
- is_balancer
- transgene_chromosome_location_name
- allele_mutation_type_dtos
- allele_inheritance_mode_dtos
Expand Down Expand Up @@ -675,14 +681,6 @@ classes:
## ------------

slots:
# This slot is currently not being used 2022-12-20; should it be? [CG]
aberration:
description: >-
Associated deficiency (etc.) whose breakpoint causes
the mutation
domain: Allele
range: string

allele_allele_associations:
domain: Allele
range: AlleleAlleleAssociation
Expand Down Expand Up @@ -1009,6 +1007,24 @@ slots:
domain: GenerationMethodDTO
range: string # CV 'Irradiation Mutagen'

is_aberration:
description: >-
Indicates whether the allele is a chromosomal aberration, defined
(per SO:1000183 - chromosome_structure_variation) as an alteration of the
genome that leads to a change in the structure or number of one or more
chromosomes.
domain: Allele
range: boolean

is_balancer:
description: >-
Indicates whether the allele is a balancer: a chromosomal rearrangement
that suppresses recombination over a region of one or more chromosomes.
Balancers are a subtype of aberration, so this is only applicable to
alleles for which is_aberration is true.
domain: Allele
range: boolean

is_extinct:
description: >-
Does the allele still exist in a population somewhere?
Expand Down