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iobio / gene.iobio

Gene.iobio vue
MIT License
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Add gnomAD homozygous count #899

Closed AlistairNWard closed 11 months ago

AlistairNWard commented 1 year ago

We currently show the gnomAD AF, but could we also get and display the count of homozygotes?

If we have this, could we also add this to the custom filter page?

tonydisera commented 12 months ago

We would need to add this to vcfAnno in annotateVariantsV2.sh.

emersonlebleu commented 12 months ago

Clarrification on this homozygote count seems to be showing here in the variant inspect card.

Screenshot 2023-10-05 at 1 03 43 PM

Is there somewhere else we are wanting this to show? The "custom filter page" is mentioned (I'm not familiar with this component is it called something else?) and Tony mentioned adding this information to "vcfAnno in annotateVariantsV2.sh" which is part of the backend code.

AlistairNWard commented 12 months ago

It looks like this must have been added since the issue was created.

For the custom filter, if you are in the variants tab of the left menu, there is a button to Add filter. Click on this and there is a modal to specify filters. It would be good to have the option to filter on homozygotes in this filter.

emersonlebleu commented 12 months ago

Got it! thanks Al I see that popup now.