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Penetrance as a percentage or fraction #255
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Responses form original post: From mbrush:
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This will be triaged to a future version unless implementations bring a concrete use case that require support in the 1.0 release. |
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. |
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. |
penetranceQualifier
is currently aMappableConcept
. 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 theMappableConcept
?Originally posted by @Mrinal-Thomas-Epic in #234 (comment)
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