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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

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