-
**Describe the bug**
ClinVar information is missing for variants.
**To Reproduce**
Steps to reproduce the behavior:
1. Go to variant https://reev.cubi.bihealth.org/variant/chr2:219747090:C:A…
-
The primary functions of seqcol are to 1) define unique identifiers for sequencing collections; 2) provide a protocol to serve sequence collection data given the identifiers; and 3) provide a function…
-
## Need
Customers have requested GENS to be implemented for Balsamic. GENS is a tool basically for viewing copy-number alterations and regions with LoH.
Originally developed in Lund, it has bee…
-
## Need
Issues have appeared in production where bcftools_quality_filter_svdb fails due to a float-value of CN from cnvpytor. This has been resolved in production manually by either rounding up or …
-
## Need
Alt_allele_in_normal in TNscope seems way too strict in filtering out the presence of the tumor in the normal. Sometimes even a sequencing error of 1 base can be enough to set this filter. …
-
## Need
[Somatic SNV and SV variant observation frequencies DB using LoqusDB started to populate since release of BALSAMIC v11](https://github.com/Clinical-Genomics/BALSAMIC/issues/1130). Next step i…
-
Came across this doublet of sequences from Shanghai and England, looking like they are the same recombinant:
```
hCoV-19/Shanghai/SCDC-HG-0518-887/2023|EPI_ISL_17725101|2023-05-17
hCoV-19/England/P…
-
From brainstorming during 2023-12-08 call on:
https://github.com/MetabolicEngineeringGroupCBMA/seguid/blob/2ed17694f309405736183afe2b94ad99fe967b36/Python/seguid.py#L494-L517
# Jotter
```pyth…
-
I am trying to run nPhase on long read and short read data from tetraploid yeast strain. However, after running nphase pipeline or algorithm, no plots are generated in Phased/Plots and no files in Pha…
-
Is VRS the right format to include variant annotation data (e.g. ClinVar annotation)? Otherwise, which GA4GH format should be used for this purpose? Also, is it possible to describe multiple variants …