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Penetrance as a percentage or fraction #255

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mbrush opened this issue Jan 16, 2025 · 4 comments
Open

Penetrance as a percentage or fraction #255

mbrush opened this issue Jan 16, 2025 · 4 comments

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@mbrush
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mbrush commented Jan 16, 2025

penetranceQualifier is currently a MappableConcept. However, penetrance is also sometimes reported as a numeric percentage of individuals with the genotype who exhibit the phenotype. How would we represent a numeric percentage in the MappableConcept?

Originally posted by @Mrinal-Thomas-Epic in #234 (comment)

@mbrush
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mbrush commented Jan 16, 2025

Responses form original post:

From mbrush:

Good point Mrinal. We could add number as an allowable data type for this qualifier. Or introduce a separate penetranceQuantifier attribute for more quantitative descriptions of penetrance. We can decide which makes the most sense when there is a concrete use case requiring this (let us know if you have one now!)

@mbrush
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mbrush commented Jan 17, 2025

This will be triaged to a future version unless implementations bring a concrete use case that require support in the 1.0 release.

@Mrinal-Thomas-Epic
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I'm ok with that. We currently represent penetrance as a number in our system, but it has been populated pretty infrequently (at least in the past). If it becomes more common, we can revisit this.

@mbrush
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mbrush commented Jan 23, 2025

Want to keep this issue open, as it will need to be addressed in the future. But won't tag it to do for the 1.0 milestone.

@mbrush mbrush reopened this Jan 23, 2025
@mbrush mbrush added this to VA-Spec Feb 10, 2025
@mbrush mbrush moved this to Backlog in VA-Spec Feb 10, 2025
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