diff --git a/models/json/beacon-v2-default-model/genomicVariations/defaultSchema.json b/models/json/beacon-v2-default-model/genomicVariations/defaultSchema.json index c07edcc85..ac260a362 100644 --- a/models/json/beacon-v2-default-model/genomicVariations/defaultSchema.json +++ b/models/json/beacon-v2-default-model/genomicVariations/defaultSchema.json @@ -441,6 +441,13 @@ }, "PopulationFrequency": { "properties": { + "allele": { + "description": "Specific allele associated with the frequency.", + "examples": [ + "A" + ], + "type": "string" + }, "alleleFrequency": { "description": "Allele frequency between 0 and 1.", "examples": [ @@ -512,6 +519,12 @@ }, "type": "array" }, + "pathogenicityPredictions": { + "items": { + "$ref": "#/definitions/PhenoClinicEffect" + }, + "type": "array" + }, "phenotypicEffects": { "items": { "$ref": "#/definitions/PhenoClinicEffect" diff --git a/models/src/beacon-v2-default-model/genomicVariations/defaultSchema.yaml b/models/src/beacon-v2-default-model/genomicVariations/defaultSchema.yaml index 2e66e4fd0..c00c026d0 100644 --- a/models/src/beacon-v2-default-model/genomicVariations/defaultSchema.yaml +++ b/models/src/beacon-v2-default-model/genomicVariations/defaultSchema.yaml @@ -321,6 +321,11 @@ definitions: description: Allele frequency between 0 and 1. examples: - 3.186e-05 + allele: + type: string + description: Specific allele associated with the frequency. + examples: + - A required: - population - alleleFrequency @@ -412,6 +417,10 @@ definitions: type: array items: $ref: '#/definitions/PhenoClinicEffect' + pathogenicityPredictions: + type: array + items: + $ref: '#/definitions/PhenoClinicEffect' SoftwareTool: type: object properties: