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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?
* 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
@larrybabb I think we want to use a
MappableConcept
for the penetrance qualifier below, right?va-spec/schema/va-spec/base/va-core-source.yaml
Lines 980 to 989 in 0228579
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 useMappableConcept
here as well?va-spec/schema/va-spec/base/va-core-source.yaml
Lines 990 to 997 in 0228579
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