-
I appreciate this valuable protocol, and it has been beneficial for me. I have some questions, and I would be very grateful if you could guide me:
- Some of the links you provided to download the …
-
## Describe the issue
VEP performed incorrect pHGVS annotation for the variant `NM_173660.5:c.1124_1127dup (rs606231128)` .
VEP annotated the variant as `NP_775931.3:p.Ala377ProfsTer31` when the cor…
-
## Describe the issue
Since vep105 added new splice region variant annotations (i.e., splice_donor_region_variant, splice_donor_5th_base_variant, splice_polypyrimidine_tract_variant), variants that w…
-
**Annotated data**:
```
Let's go to party(1). We will have lots of fun.
```
Over here {E1} and {E2} refers to edition 1 and 2. the part and parties and spelling variant found in different edition…
-
Wanneer ik naar https://www.dso-toolkit.nl/master/components/domeinspecifiek/juridisch/annotation navigeer dan verschijnt
Momenteel bestaan er 5 Storybook Annotation Stories:
- core-annotat…
-
Hello, edg1983. I have recently been focusing on the annotation and interpretation of non-coding region variants. I was fortunate to learn about the annotation tool you developed and am very intereste…
-
There are a bunch of
````
import javax.annotation.Nonnull;
import javax.annotation.Nullable;
````
Annotations - is it possible to provide a variant that uses the more modern jakarta equivale…
-
I am trying to use REGENIE to do burden/set tests with different masks based on variant predicted deleteriousness - much as you did in your main UK Biobank exomes paper.
For example, I thought that I…
-
### Description of the bug
ERROR ~ while scanning a simple key
in 'reader', line 3, column 1:
0.4.8
^ …
-
In GitLab by @krvoigt on May 12, 2021, 12:33
We already have wireframes and a concept. We need a roadmapping for the implementation steps.
Respective Ahiqar-ticket: [TIDO: implement concept for vari…