monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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Do we need observation status on `Disease`? #144

Closed ielis closed 3 months ago

ielis commented 3 months ago

genophenocorr.model.Disease includes is_present property to indicate if the patient was diagnosed with the disease or not.

I think we may want to drop the is_present property and represent the diagnosis simply by adding the Disease to the Patient.

In result, the patient.diseases will provide a sequence of diseases that the patient has been diagnosed with, and we can imply absence of the diagnosis by checking that the disease is not in patient.diseases.

However, phenopacket schema includes the excluded attribute in the Disease message.

@pnrobinson do you think we should keep the is_present property on genophenocorr model? Do you see any use case for disease.is_present == False?

pnrobinson commented 3 months ago

Itt is often important to say that a specific disease was ruled out. I would say adding bool excluded default False would be useful.

ielis commented 3 months ago

OK, thanks!