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Class: FunctionalAssayResult

The result of assessing a genetic variant's effect under a single instance of a functional assay.

URI: sepio-cg:FunctionalAssayResult

Slots

Name Range Cardinality Description Info
result string 1..1 The measured value of this variant's effect on function. The value must be consistent with the range of the referenced assay. .
result_assertion string 0..1 An assertion as to the categorized impact of the variant's effect, as described by the authors reporting the assay (if provided). .
assay FunctionalAssay 0..1 None .
variant Variant 0..1 None .
units unit 0..1 For qualtitatve assays, the units of the result. This may be omitted if the referenced assay provides a default value for the units of its measurements. Values must be from the Units of Measurement Ontology (UO) .
validation_control ValidationControlType 0..1 Optional field used to indicate if this result is for a variant that was used as a validation control for the assay either as a benign or pathogenic variant. .
replicate_count integer 0..1 The number of times the variant was evaluated using the assay to produce the reported result. .
standard_deviation decimal 0..1 None .
standard_error_of_mean decimal 0..1 None .
range string 0..1 None .
intraquartile_range string 0..1 None .
p_value decimal 0..1 None .
is_approximation_by_curator boolean 0..1 A flag to indicate that the curator had to use some method of approximation of the result (e.g., by reading the value from a graph when numerical values were not provided by the authors reporting the assay). .

Usages

Identifier and Mapping Information

LinkML Specification

Direct

name: FunctionalAssayResult
description: The result of assessing a genetic variant's effect under a single instance
  of a functional assay.
from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
attributes:
  result:
    name: result
    description: The measured value of this variant's effect on function. The value
      must be consistent with the `range` of the referenced `assay`.
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    required: true
  result assertion:
    name: result assertion
    description: An assertion as to the categorized impact of the variant's effect,
      as described by the authors reporting the `assay` (if provided).
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
  assay:
    name: assay
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: FunctionalAssay
  variant:
    name: variant
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: Variant
  units:
    name: units
    description: For qualtitatve assays, the units of the `result`. This may be omitted
      if the referenced `assay` provides a default value for the units of its measurements.
      Values must be from the Units of Measurement Ontology (UO)
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: unit
  validation control:
    name: validation control
    description: Optional field used to indicate if this result is for a variant that
      was used as a validation control for the `assay` either as a `benign` or `pathogenic`
      variant.
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: ValidationControlType
  replicate count:
    name: replicate count
    description: The number of times the `variant` was evaluated using the `assay`
      to produce the reported `result`.
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: integer
    minimum_value: 0
  standard deviation:
    name: standard deviation
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: decimal
    minimum_value: 0
  standard error of mean:
    name: standard error of mean
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: decimal
    minimum_value: 0
  range:
    name: range
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    pattern: ^[<>]?[-\d]+(.\d+)? - [<>]?[-\d]+(.\d+)?
  intraquartile range:
    name: intraquartile range
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    pattern: ^[<>]?[-\d]+(.\d+)? - [<>]?[-\d]+(.\d+)?
  p value:
    name: p value
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: decimal
    minimum_value: 0
    maximum_value: 1
  is approximation by curator:
    name: is approximation by curator
    description: A flag to indicate that the curator had to use some method of approximation
      of the `result` (e.g., by reading the value from a graph when numerical values
      were not provided by the authors reporting the `assay`).
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    range: boolean

Induced

name: FunctionalAssayResult
description: The result of assessing a genetic variant's effect under a single instance
  of a functional assay.
from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
attributes:
  result:
    name: result
    description: The measured value of this variant's effect on function. The value
      must be consistent with the `range` of the referenced `assay`.
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: result
    owner: FunctionalAssayResult
    range: string
    required: true
  result assertion:
    name: result assertion
    description: An assertion as to the categorized impact of the variant's effect,
      as described by the authors reporting the `assay` (if provided).
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: result_assertion
    owner: FunctionalAssayResult
    range: string
  assay:
    name: assay
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: assay
    owner: FunctionalAssayResult
    range: FunctionalAssay
  variant:
    name: variant
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: variant
    owner: FunctionalAssayResult
    range: Variant
  units:
    name: units
    description: For qualtitatve assays, the units of the `result`. This may be omitted
      if the referenced `assay` provides a default value for the units of its measurements.
      Values must be from the Units of Measurement Ontology (UO)
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: units
    owner: FunctionalAssayResult
    range: unit
  validation control:
    name: validation control
    description: Optional field used to indicate if this result is for a variant that
      was used as a validation control for the `assay` either as a `benign` or `pathogenic`
      variant.
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: validation_control
    owner: FunctionalAssayResult
    range: ValidationControlType
  replicate count:
    name: replicate count
    description: The number of times the `variant` was evaluated using the `assay`
      to produce the reported `result`.
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: replicate_count
    owner: FunctionalAssayResult
    range: integer
    minimum_value: 0
  standard deviation:
    name: standard deviation
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: standard_deviation
    owner: FunctionalAssayResult
    range: decimal
    minimum_value: 0
  standard error of mean:
    name: standard error of mean
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: standard_error_of_mean
    owner: FunctionalAssayResult
    range: decimal
    minimum_value: 0
  range:
    name: range
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: range
    owner: FunctionalAssayResult
    range: string
    pattern: ^[<>]?[-\d]+(.\d+)? - [<>]?[-\d]+(.\d+)?
  intraquartile range:
    name: intraquartile range
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: intraquartile_range
    owner: FunctionalAssayResult
    range: string
    pattern: ^[<>]?[-\d]+(.\d+)? - [<>]?[-\d]+(.\d+)?
  p value:
    name: p value
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: p_value
    owner: FunctionalAssayResult
    range: decimal
    minimum_value: 0
    maximum_value: 1
  is approximation by curator:
    name: is approximation by curator
    description: A flag to indicate that the curator had to use some method of approximation
      of the `result` (e.g., by reading the value from a graph when numerical values
      were not provided by the authors reporting the `assay`).
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: is_approximation_by_curator
    owner: FunctionalAssayResult
    range: boolean