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iobio / gene.iobio

Gene.iobio vue
MIT License
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When there is no pathogenic variant, but striked-out grey circle should show the consequence. #566

Closed tonydisera closed 3 years ago

tonydisera commented 4 years ago

Dennis Grishan (Nebula) noticed that there are cases where this shows:

Screen Shot 2020-07-23 at 6 59 45 PM

Instead of this:

![Uploading Screen Shot 2020-07-23 at 6.59.49 PM.png…]()

tonydisera commented 4 years ago
Screen Shot 2020-07-23 at 9 06 50 PM
AlistairNWard commented 4 years ago

@tonydisera the screenshot of what is supposed to be seen is missing. I have problems with the gray icon in other places since it isn't clear what it implies. My assumption here is that the variant isn't in ClinVar because it is intronic? In cases where we just say intron variant, is it clear to a user what they are supposed to draw from that? Should we have a tooltip explaining what that means in terms of ClinVar? Or if there is no clinical significance, should we just state that there is no clinical significance?

mvelinder commented 3 years ago

Let's incorporate this into #628 glyph overhaul

AlistairNWard commented 3 years ago

The Nebula document that raised this issue didn't include a specific example to check. I looked through some whole genomes and found grayed out variants and intron variants, and couldn't see an example of this happening. The pathogenicity was either blank or included a statement that it was an intron variant. With no means to replicate, this can be closed.