-
Load demo data. Now go to 'Files' dialog and select a file for mother. Now reload the browser window. Instead of warning user and bringing up 'Files' dialog, the first gene just continues to show …
-
Sub-ticket for gnomAD v4 update https://github.com/ClinGen/gene-and-variant-curation-tools/issues/47
The gnomAD link out in the VCI is now pointing to the genomic coordinates of the variant in gnom…
-
**Describe the bug**
For some datasets where ResFinder ran on the raw reads report blaVIM beta lactamase resistance genes, there is no report of VIM genes at all in microSALT.
KS reports:
> För…
-
Querying "what drugs may treat Postaxial Acrofacial Dysostosis (MIller Syndrome), the 2nd result is Brequinar, with two supporting paths. The second path chains 'brequinar causes decreased activity of…
-
In the rdf datasets we are deriving from sources, we implement the practice of using class IRIs as individuals (i.e. punning) to simplify re-use of established community vocabularies in describing our…
-
The Pangolin predictions from the SpliceAI Lookup have consistently match my locally computed Pangolin predictions. However, I noticed today that a Pangolin prediction from the SpliceAI Lookup websit…
-
Hi!
I usually run rvtests for rare variant testing with no problems at all. However, only for some genes, I've been getting the following error message:
```
[INFO] Analysis begins with [ 15301 ]…
-
I would like to set up mutalyzer for Mycobacterium tuberculosis. Just to test if it could work, I've quickly modified the mutalyzer_retriever (in a very hacky way!) and managed to get it to give me a …
-
Hi!
I ran the RUNNER pipeline code, but I only got the excel file of variant annotations, with no qqplot, no *.gene.mutationburden.txt, which is described in https://pmglab.top/kggseq/doc10/UserMan…
-
Loaded the bookmarks for RareVariantVis and it takes a while (there are 390 bookmarks). I wonder if it would be worth putting in a progress bar for this, and maybe when loading variants too. It's prac…