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 |
|---|---|---|---|---|---|
| version | string | 0..1 | Version of this AssertionMethod | PAV:version | VariantPathogenicityInterpretationGuideline |
| url | string | 0..1 | Location of a document that contains a description of this AssertionMethod | ERO:0000480 | 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 | version | url | scoringAlgorithm |
|---|---|---|---|---|---|
| (ACMG guidelines 2015) |
ACMG guidelines 2015 |
1.0 |
https://www.acmg.net/docs/Standards_Guidelines_for_the_Interpretation_of_Sequence_Variants.pdf |
(ACMG ISV 2015 combining/scoring algorithm) |