Slot: targetProposition
The possible fact against which evidence items contained in an Evidence Line were collectively evaluated, in determining the overall strength and direction of support they provide. For example, in an ACMG Guideline-based assessment of variant pathogenicity, the support provided by distinct lines of evidence are assessed against a target proposition that some variant is pathogenic for a specific disease.
Comments
- An example based on the ACMG Guidelines for germline variant pathogenicity interpretation: Consider a curator assessing the evidence provided by population frequency data for a specific variant based on the ACMG criteria. In order to assign a strength (e.g. moderate vs strong) and direction (supports vs disputes) to this data as evidence, there must be some 'target proposition' toward which the evidence is assessed - which in this cases is the proposition that the variant is pathogenic for the disease of interest. If the PM2 criteria is deemed 'met', this indicates that the population frequency evidence provides 'moderate' (strength) 'support' (direction) for this target proposition.
URI: sepio_linkml:targetProposition
Applicable Classes
Name | Description | Modifies Slot |
---|---|---|
EvidenceLine | An independent, evidence-based argument that may support or refute the validi... | no |
Properties
- Range: Proposition
Identifier and Mapping Information
Schema Source
- from schema: https://w3id.org/sepio-framework/sepio-linkml
Mappings
Mapping Type | Mapped Value |
---|---|
self | sepio_linkml:targetProposition |
native | sepio_linkml:targetProposition |
LinkML Source
name: targetProposition
description: The possible fact against which evidence items contained in an Evidence
Line were collectively evaluated, in determining the overall strength and direction
of support they provide. For example, in an ACMG Guideline-based assessment of variant
pathogenicity, the support provided by distinct lines of evidence are assessed against
a target proposition that some variant is pathogenic for a specific disease.
comments:
- 'An example based on the ACMG Guidelines for germline variant pathogenicity interpretation:
Consider a curator assessing the evidence provided by population frequency data
for a specific variant based on the ACMG criteria. In order to assign a strength
(e.g. moderate vs strong) and direction (supports vs disputes) to this data as evidence,
there must be some ''target proposition'' toward which the evidence is assessed
- which in this cases is the proposition that the variant is pathogenic for the
disease of interest. If the PM2 criteria is deemed ''met'', this indicates that
the population frequency evidence provides ''moderate'' (strength) ''support'' (direction)
for this target proposition.'
from_schema: https://w3id.org/sepio-framework/sepio-linkml
status: Informative
rank: 1000
alias: targetProposition
owner: EvidenceLine
domain_of:
- EvidenceLine
range: Proposition
required: false
multivalued: false