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It's marked as TODO there, so might as well keep track of it as an issue here...
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1. Click on ACMG 56 genes from the 'Select Genes' side panel.
2. Click on 'Manage genes' dropdown and select 'Remove all genes'
3. Now click on ACMG 56 genes button again. Nada.
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Try demo data with ACMG gene set. Last gene has no variants (chr x?) so count shows 55 of 56.
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Currently we use `Positive` and `Negative` for `Clinical Significance` values but it would make more sense to use the nomenclature from the ACMG guidelines for `Predictive` evidence:
https://www.ac…
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There is a common scenario when a user wants to rerun QC with a different `coverage` BED file. Very often in AZ, Bcbio was run with some generic exome BED file set as `coverage` in yaml, and later the…
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Working on getting @larrybabb sheet updates in place...
E37 no longer exists as a type, I'll go ahead and delete the placeholder it has in the docs.
@larrybabb -- feel free to close this issue i…
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ProposeInterpretation:
1) I'm not sure why Condition is here?
2) But maybe the workspace should be? So the interpretation is then understood to be the combination of the outcomes, but within the co…
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Found this in VarInterp274, looks like a mistake to me
```
"condition": [
{
"cg:id": "-"
}
],
```
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ConditionMechanism is a way to say things like "Nonsense variants in gene X are the primary cause of disease Y". The strength of the mechanism can be primary, established, common, and suggested. Th…
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Great work on qtVlm!
A fantastic program!
However, I cannot upload our polars into “Boat(s) settings” for our catamaran that I have created using the weather routing plugin for OpenCPN. I have t…