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Pathogenicity qualifiers #226

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ahwagner opened this issue Nov 25, 2024 · 2 comments
Open

Pathogenicity qualifiers #226

ahwagner opened this issue Nov 25, 2024 · 2 comments

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@ahwagner
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@larrybabb I think we want to use a MappableConcept for the penetrance qualifier below, right?

penetranceQualifier:
type: string
enum:
- high
- low
- risk allele
description: >-
Reports the penetrance of the pathogenic effect - i.e. the extent to which the
variant impact is expressed by individuals carrying it as a measure of the
proportion of carriers exhibiting the condition.

And do we want to support multiple modes of inheritance in the mode of inheritance qualifier below? If so, should we be clearer about the semantics of what multiple modes mean? Do we want to leave this as Coding, or use MappableConcept here as well?

modeOfInheritanceQualifier:
type: array
ordered: false
items:
$ref: "/ga4gh/schema/gks-core/1.x/json/Coding"
description: >-
Reports a pattern of inheritance expected for the pathogenic effect of the variant.
Use HPO terms within the hierarchy of 'HP:0000005' (mode of inheritance) to specify.

@ahwagner
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we will also add shared alleleOriginQualifier with MappableConcept

@larrybabb
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lgtm

ahwagner added a commit that referenced this issue Nov 26, 2024
ahwagner added a commit that referenced this issue Nov 26, 2024
* adjust qualifiers per #226

* add proposition tests

* var path to TU

* variant oncogenicity proposition to TU

* prognostic proposition to TU

* var diagnostic prop to TU

* therapeutic response prop to TU
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