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monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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Show counts of monoallelic and biallelic variants #43

Closed ielis closed 3 weeks ago

ielis commented 10 months ago

For a cohort, show counts of the monoallelic and biallelic variants.

pnrobinson commented 1 month ago

@ielis It would probably be bettter to have a table with also counts according to mutation category and common variants etc. I will start to work on a viewer.

lnrekerle commented 3 weeks ago

@ielis @pnrobinson Do we still want this? Or are the counts we show in the viewer currently enough?

ielis commented 3 weeks ago

I think we will need to revise the way how we model variants and genotypes, but first we must define the specification/requirements.

Let's keep this open for the time being.

pnrobinson commented 3 weeks ago

I am not sure I understand the issue. If we are talking about a recessive disease, we can have a homozygous variant (biallelic) or two heterozygous variants (each monoallelic). Also, some diseases rarely can have both dominant or recessive inheritance. However, these are rare things and probably we do not want to display counts like this by default.

ielis commented 3 weeks ago

Yeah, It is not entirely clear to me anymore what was the motivation behind this issue. It may have become stale.

Let me close it.