diff --git a/schemas/graph/Exon.yaml b/schemas/graph/Exon.yaml new file mode 100644 index 0000000..f1d43f1 --- /dev/null +++ b/schemas/graph/Exon.yaml @@ -0,0 +1,81 @@ +$schema: https://json-schema.org/draft/2020-12/schema +$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: + $ref: Transcript.yaml + element_property: true + backref: transcripts_exon + exonId: + type: string + element_property: true + projectId: + element_property: true + type: string + submitterId: + type: string + element_property: true + createdDateTime: + element_property: true + type: string + format: date-time + updatedDateTime: + element_property: true + type: string + format: date-time + resourceType: + default: exon + type: string + description: One of the resource types defined as part of BMEG diff --git a/schemas/graph/Gene.yaml b/schemas/graph/Gene.yaml new file mode 100644 index 0000000..2d6352a --- /dev/null +++ b/schemas/graph/Gene.yaml @@ -0,0 +1,65 @@ +$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 diff --git a/schemas/graph/GeneExpression.yaml b/schemas/graph/GeneExpression.yaml new file mode 100644 index 0000000..c06ec93 --- /dev/null +++ b/schemas/graph/GeneExpression.yaml @@ -0,0 +1,77 @@ +$id: GeneExpression +$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: + $ref: Specimen.yaml + type: array + submitterId: + element_property: true + type: string + type: + element_property: true + type: string + updatedDateTime: + element_property: true + format: date-time + type: string + values: + additionalProperties: + type: number + element_property: true + propertyNames: + pattern: ^ENSG[0-9]+ + type: object +title: GeneExpression +type: object diff --git a/schemas/graph/GeneOntologyTerm.yaml b/schemas/graph/GeneOntologyTerm.yaml new file mode 100644 index 0000000..b2bacdc --- /dev/null +++ b/schemas/graph/GeneOntologyTerm.yaml @@ -0,0 +1,95 @@ +$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: + $ref: GeneOntologyTerm.yaml + element_property: true + backref: childTerms_gene_ontology_term + resourceType: + default: gene_ontology_term + type: string + description: One of the resource types defined as part of BMEG diff --git a/schemas/graph/Publication.yaml b/schemas/graph/Publication.yaml new file mode 100644 index 0000000..cb7731f --- /dev/null +++ b/schemas/graph/Publication.yaml @@ -0,0 +1,55 @@ +$schema: https://json-schema.org/draft/2020-12/schema +$id: Publication +title: Publication +type: object +description: A publication - In academic publishing, a scientific journal is a periodical + publication intended to further the progress of science, usually by sharing findings + from research with readers. +links: [] +properties: + id: + type: string + systemAlias: node_id + element_property: true + url: + type: string + element_property: true + abstract: + type: string + element_property: true + author: + type: array + element_property: true + citation: + type: array + element_property: true + date: + type: string + element_property: true + text: + type: string + element_property: true + title: + type: string + element_property: true + type: + type: string + element_property: true + projectId: + element_property: true + type: string + submitterId: + type: string + element_property: true + createdDateTime: + element_property: true + type: string + format: date-time + updatedDateTime: + element_property: true + type: string + format: date-time + resourceType: + default: publication + type: string + description: One of the resource types defined as part of BMEG diff --git a/schemas/graph/Transcript.yaml b/schemas/graph/Transcript.yaml new file mode 100644 index 0000000..6b3fd30 --- /dev/null +++ b/schemas/graph/Transcript.yaml @@ -0,0 +1,85 @@ +$schema: https://json-schema.org/draft/2020-12/schema +$id: Transcript +title: Transcript +type: object +description: A transcript - An RNA synthesized on a DNA or RNA template by an RNA + polymerase. +links: + - rel: gene_Gene + href: Gene/{id} + templateRequired: + - id + targetSchema: + $ref: Gene.yaml + templatePointers: + id: /gene/-/id + targetHints: + directionality: + - outbound + multiplicity: + - has_one + backref: + - gene_transcript +properties: + biotype: + type: string + element_property: true + genome: + element_property: true + type: string + description: Reference to a genome build + enum: + - GRCh37 + - GRCh38 + chromosome: + element_property: true + type: string + description: Reference to a chromosome + pattern: ^(chr).*$ + 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: + - + + - '-' + id: + type: string + systemAlias: node_id + element_property: true + type: + type: string + element_property: true + gene: + type: array + items: + $ref: Gene.yaml + element_property: true + backref: gene_transcript + transcriptId: + type: string + element_property: true + projectId: + element_property: true + type: string + submitterId: + type: string + element_property: true + createdDateTime: + element_property: true + type: string + format: date-time + updatedDateTime: + element_property: true + type: string + format: date-time + resourceType: + default: transcript + type: string + description: One of the resource types defined as part of BMEG diff --git a/schemas/graph/TranscriptExpression.yaml b/schemas/graph/TranscriptExpression.yaml new file mode 100644 index 0000000..2edaaa0 --- /dev/null +++ b/schemas/graph/TranscriptExpression.yaml @@ -0,0 +1,76 @@ +$id: TranscriptExpression +$schema: https://json-schema.org/draft/2020-12/schema +description: Transcript level expression values for an aliquot - Transcript expression + is the pattern of gene expression at the level of genetic transcription in a specific + organism or under specific circumstances in specific cells. Here in aliquot samples. +links: +- href: Specimen/{id} + rel: specimen_Specimen + targetHints: + backref: + - specimen_transcriptexpression + 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: transcript_expression + description: One of the resource types defined as part of BMEG + type: string + specimen: + backref: specimen_transcriptexpression + 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: ^ENST[0-9]+ + type: object +title: TranscriptExpression +type: object