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81 changes: 81 additions & 0 deletions schemas/graph/Exon.yaml
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$schema: https://json-schema.org/draft/2020-12/schema
$id: Exon
title: Exon
type: object
description: An exon - Exon is a region of the transcript sequence within a gene which
is not removed from the primary RNA transcript by RNA splicing.
links:
- rel: transcripts_Transcript
href: Transcript/{id}
templateRequired:
- id
targetSchema:
$ref: Transcript.yaml
templatePointers:
id: /transcripts/-/id
targetHints:
directionality:
- outbound
multiplicity:
- has_many
backref:
- transcripts_exon
properties:
id:
type: string
element_property: true
genome:
element_property: true
type: string
description: Reference to a genome build
enum:
- GRCh37
- GRCh38
chromosome:
element_property: true
type: string
description: Reference to a chromosome
pattern: ^(chr).*$
start:
type: integer
element_property: true
end:
type: integer
element_property: true
strand:
element_property: true
type: string
description: Reference to a chromosome strand
enum:
- +
- '-'
type:
type: string
element_property: true
transcripts:
type: array
items:
$ref: Transcript.yaml
element_property: true
backref: transcripts_exon
exonId:
type: string
element_property: true
projectId:
element_property: true
type: string
submitterId:
type: string
element_property: true
createdDateTime:
element_property: true
type: string
format: date-time
updatedDateTime:
element_property: true
type: string
format: date-time
resourceType:
default: exon
type: string
description: One of the resource types defined as part of BMEG
65 changes: 65 additions & 0 deletions schemas/graph/Gene.yaml
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$schema: https://json-schema.org/draft/2020-12/schema
$id: Gene
title: Gene
type: object
description: A region (or regions) that includes all of the sequence elements necessary
to encode a functional transcript. A gene may include regulatory regions, transcribed
regions and/or other functional sequence regions. A gene may be considered as a
unit of inheritance.
links: []
properties:
id:
type: string
element_property: true
description:
type: string
element_property: true
symbol:
type: string
element_property: true
genome:
element_property: true
type: string
description: Reference to a genome build
enum:
- GRCh37
- GRCh38
chromosome:
element_property: true
type: string
description: Reference to a chromosome
pattern: ^(chr).*$
start:
type: integer
element_property: true
end:
type: integer
element_property: true
strand:
element_property: true
type: string
description: Reference to a chromosome strand
enum:
- +
- '-'
type:
type: string
element_property: true
projectId:
element_property: true
type: string
submitterId:
type: string
element_property: true
createdDateTime:
element_property: true
type: string
format: date-time
updatedDateTime:
element_property: true
type: string
format: date-time
resourceType:
default: gene
type: string
description: One of the resource types defined as part of BMEG
77 changes: 77 additions & 0 deletions schemas/graph/GeneExpression.yaml
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$id: GeneExpression
$schema: https://json-schema.org/draft/2020-12/schema
description: Gene level expression values for an aliquot - The process in which a
genes sequence is converted into a mature gene product (protein or RNA). This includes
the production of an RNA transcript and its processing, as well as translation and
maturation for protein-coding genes.
links:
- href: Specimen/{id}
rel: specimen_Specimen
targetHints:
backref:
- specimen_geneexpression
directionality:
- outbound
multiplicity:
- has_one
targetSchema:
$ref: Specimen.yaml
templatePointers:
id: /specimen/-/id
templateRequired:
- id
properties:
createdDateTime:
element_property: true
format: date-time
type: string
id:
element_property: true
systemAlias: node_id
type: string
method:
element_property: true
type: string
metric:
description: Expression metric
element_property: true
enum:
- TPM
- TPM_GENE
- RPKM
- FPKM
- RAW_COUNT
- RMA
type: string
projectId:
element_property: true
type: string
resourceType:
default: gene_expression
description: One of the resource types defined as part of BMEG
type: string
specimen:
backref: specimen_geneexpression
element_property: true
items:
$ref: Specimen.yaml
type: array
submitterId:
element_property: true
type: string
type:
element_property: true
type: string
updatedDateTime:
element_property: true
format: date-time
type: string
values:
additionalProperties:
type: number
element_property: true
propertyNames:
pattern: ^ENSG[0-9]+
type: object
title: GeneExpression
type: object
95 changes: 95 additions & 0 deletions schemas/graph/GeneOntologyTerm.yaml
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$schema: https://json-schema.org/draft/2020-12/schema
$id: GeneOntologyTerm
title: GeneOntologyTerm
type: object
description: The Gene Ontology project provides an ontology of defined terms representing gene
product properties.
links:
- rel: genes_Gene
href: Gene/{id}
templateRequired:
- id
targetSchema:
$ref: Gene.yaml
templatePointers:
id: /genes/-/id
targetHints:
directionality:
- outbound
multiplicity:
- has_many
backref:
- genes_gene_ontology_term
- rel: childTerms_GeneOntologyTer
href: GeneOntologyTerm/{id}
templateRequired:
- id
targetSchema:
$ref: GeneOntologyTerm.yaml
templatePointers:
id: /childTerms/-/id
targetHints:
directionality:
- outbound
multiplicity:
- has_many
backref:
- childTerms_gene_ontology_term
properties:
name:
type: string
element_property: true
namespace:
type: string
element_property: true
definition:
type: string
element_property: true
synonym:
type: array
element_property: true
xref:
type: array
items:
type: string
element_property: true
id:
type: string
systemAlias: node_id
element_property: true
type:
type: string
element_property: true
genes:
type: array
items:
$ref: Gene.yaml
element_property: true
backref: genes_gene_ontology_term
goId:
type: string
element_property: true
projectId:
element_property: true
type: string
submitterId:
type: string
element_property: true
createdDateTime:
element_property: true
type: string
format: date-time
updatedDateTime:
element_property: true
type: string
format: date-time
childTerms:
type: array
items:
$ref: GeneOntologyTerm.yaml
element_property: true
backref: childTerms_gene_ontology_term
resourceType:
default: gene_ontology_term
type: string
description: One of the resource types defined as part of BMEG
55 changes: 55 additions & 0 deletions schemas/graph/Publication.yaml
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$schema: https://json-schema.org/draft/2020-12/schema
$id: Publication
title: Publication
type: object
description: A publication - In academic publishing, a scientific journal is a periodical
publication intended to further the progress of science, usually by sharing findings
from research with readers.
links: []
properties:
id:
type: string
systemAlias: node_id
element_property: true
url:
type: string
element_property: true
abstract:
type: string
element_property: true
author:
type: array
element_property: true
citation:
type: array
element_property: true
date:
type: string
element_property: true
text:
type: string
element_property: true
title:
type: string
element_property: true
type:
type: string
element_property: true
projectId:
element_property: true
type: string
submitterId:
type: string
element_property: true
createdDateTime:
element_property: true
type: string
format: date-time
updatedDateTime:
element_property: true
type: string
format: date-time
resourceType:
default: publication
type: string
description: One of the resource types defined as part of BMEG
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