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split pathogenicity
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ahwagner committed Feb 23, 2024
1 parent c1c9d79 commit ee99458
Showing 1 changed file with 9 additions and 163 deletions.
172 changes: 9 additions & 163 deletions schema/var-pathogenicity-source.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -4,45 +4,18 @@ type: object
strict: true

imports:
gks.common: gks.common-source.yaml
vrs: vrs-source.yaml
catvrs: catvrs-source.yaml
annot: annotation-source.yaml
va.core: core-im-source.yaml
gks.common: imports/gks.common-source.yaml
catvrs: imports/catvrs-source.yaml
vrs: imports/vrs-source.yaml

namespaces:
gks.common: gks.common.json#/$defs/
catvrs: catvrs.json#/$defs/
vrs: vrs.json#/$defs/
annot: annotation.json#/$defs/
va.core: core-im.json#/$defs/
gks.common: imports/gks.common.json#/$defs/
catvrs: imports/catvrs.json#/$defs/
vrs: imports/vrs.json#/$defs/

$defs:
VariantStatement:
inherits: annot:Statement
description: >-
A :ref:`Statement` describing the impact of a variant.
heritableProperties:
variant:
extends: subject
oneOf:
- $refCurie: vrs:Variation
- $refCurie: catvrs:CategoricalVariation
- $refCurie: gks.common:IRI
description: A variant that is the subject of the Statement.

VariantClassification:
inherits: VariantStatement
description: >-
A :ref:`VariantStatement` classifying the impact of a variant.
heritableProperties:
classification:
oneOf:
- $refCurie: gks.common:Coding
- $refCurie: gks.common:IRI
description: >-
A methodological, summary classification about the impact of a variant.
heritableRequired:
- classification

VariantPathogenicity:
type: object
maturity: Alpha
Expand Down Expand Up @@ -94,131 +67,4 @@ $defs:
A gene context that qualifies the Statement.
$refCurie: gks.common:Gene
required:
- condition

VariantStudySummary:
inherits: VariantStatement
description: >-
A :ref:`Statement` summarizing evidence about the impact of a variant from
one or more studies.
heritableProperties:
isReportedIn:
extends: isReportedIn
minItems: 1
heritableRequired:
- isReportedIn

VariantOncogenicityStudy:
type: object
inherits: VariantStudySummary
maturity: Alpha
description: >-
A study summarization supporting or refuting the effect of variant on oncogenesis of a tumor type.
properties:
type:
type: string
const: "VariantOncogenicity"
default: "VariantOncogenicity"
description: >-
MUST be "VariantOncogenicity".
predicate:
extends: predicate
enum:
- isOncogenicFor
- isProtectiveFor
- isPredisposingFor
tumorType:
extends: object
oneOf:
- $refCurie: gks.common:Condition
- $refCurie: gks.common:IRI
description: >-
The tumor type for which the variant impact is evaluated.
qualifiers:
extends: qualifiers
properties:
alleleOrigin:
type: string
description: >-
Whether the statement should be interpreted in the context of an inherited
(germline) variant, an acquired (somatic) mutation, or both (combined).
enum:
- germline
- somatic
- combined
allelePrevalence:
type: string
description: >-
Whether the statement should be interpreted in the context of the variant
being rare or common.
enum:
- rare
- common
geneContext:
description: >-
A gene context that qualifies the Statement.
$refCurie: gks.common:Gene
required:
- tumorType
- predicate

VariantTherapeuticResponseStudy:
type: object
maturity: Alpha
inherits: VariantStudySummary
description: >-
A study summarization describing the role of a variant in modulating the response of a
neoplasm to drug administration or other therapeutic procedure.
properties:
type:
type: string
const: "VariantTherapeuticResponseStudy"
default: "VariantTherapeuticResponseStudy"
description: >-
MUST be "VariantTherapeuticResponseStudy".
predicate:
extends: predicate
enum:
- predictsSensitivityTo
- predictsResistanceTo
therapeutic:
description: A drug administration or other therapeutic procedure that the neoplasm
is intended to respond to.
extends: object
oneOf:
- $refCurie: gks.common:TherapeuticProcedure
- $refCurie: gks.common:IRI
tumorType:
oneOf:
- $refCurie: gks.common:Condition
- $refCurie: gks.common:IRI
description: >-
The tumor type context in which the variant impact is evaluated.
qualifiers:
extends: qualifiers
properties:
alleleOrigin:
type: string
description: >-
Whether the statement should be interpreted in the context of an inherited
(germline) variant, an acquired (somatic) mutation, or both (combined).
enum:
- germline
- somatic
- combined
allelePrevalence:
type: string
description: >-
Whether the statement should be interpreted in the context of the variant
being rare or common.
enum:
- rare
- common
geneContext:
description: >-
A gene context that qualifies the Statement.
$refCurie: gks.common:Gene
required:
- tumorType
- predicate
- therapeutic
- condition

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