VariantPathogenicityInterpretationGuideline

A specification that describes how to interpret information as evidence in order to make an assertion about the pathogenicity of a genetic variant.

SEPIO:0000193
Descended from DomainEntity

Scope and Usage

Guidelines typically include specific 'variant interpretation criterion' that describe how to interpret the direction and strength of evidence provided by a particular type of information, and 'criterion scoring algorithms' which describe how to combine the outcomes of each criterion assessment to arrive at a final interpretation of a variant's pathogenicity. . . .

Attributes

Name Type Cardinality Description IRI Defined in
url string 0..1 Location of a document that contains a description of this AssertionMethod ERO:0000480 VariantPathogenicityInterpretationGuideline
version string 0..1 Version of this AssertionMethod PAV:version VariantPathogenicityInterpretationGuideline
scoringAlgorithm @id 0..1 The algorithm used to combine AssertionCriteria into a final Interpretation using this Method BFO:0000051 VariantPathogenicityInterpretationGuideline
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity

Instances

ID label description url version scoringAlgorithm

CGEX:AssertMeth331

ACMG ISV guidelines 2015

https://www.acmg.net/docs/Standards_Guidelines_for_the_Interpretation_of_Sequence_Variants.pdf

1.0

CGEX:AssertMethScoringAlgorithm001