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Hi,
After downloading exomiser 10.0.1 and 1802_hg19 dataset, I ran the NA19722_601952_AUTOSOMAL_RECESSIVE_POMP_13_29233225_5UTR_38 example. Everything went fine, except that in the output several v…
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I'm debugging ChakraCore with ChakraCore-Debugger. This is my launch config:
```
{
"version": "0.2.0",
"configurations": [
{
"name": "Attach",
"request": "attach",
…
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When running _genonce.sh locally, I get these errors
```
No value set found at https://github.com/phenopackets/core-ig/StructureDefinition/acmg-pathogenicity-classification#Extension.value[x]:valueC…
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Hi,
I have used AnnotSV v3.4 to annotate copy number variants identified through the GATK-gCNV pipeline. I need to filter these variants based on their frequency in gnomAD, but can find such informat…
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15697 1
163960 3
2250 4
1686 5
1 ACMG_class
27464 NA
Hi, Why there are no class 2 in ACMG_class column?
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**Is your feature request related to a problem? Please describe.**
After implementaino of #77 we have AutoPP3BP4 class. Now we need to properly implement all the methods and test them
**Describe t…
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**Is your feature request related to a problem? Please describe.**
We've implemented #71 . Now we need to finish it
**Describe the solution you'd like**
- Implement methods in the class
- Add un…
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This request was created from a contribution made by Joyce Anon on April 25, 2022 06:30 UTC.
Link: [https://gatk.broadinstitute.org/hc/en-us/community/posts/5573282748699-Error-ShouldNeverReachHereEx…
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**Is your feature request related to a problem? Please describe.**
There are ACMG classifications for CNVs. VarFish does not provide support for them.
**Describe the solution you'd like**
Imp…
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Can an Edit-function be added to the ACMG-classification-module in Scout, available to the author of each ACMG-classification? For example, when we have meetings about a variant, with the author of a …