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