-
## Describe the issue
Some BND variants are missing vep annotations, while the rest have them.
## Additional information
### System
- VEP version: 113
- VEP Cache version: 113
### Full VEP…
-
**Describe the bug**
Currently, mehari does not annotate tx on the MT chromosome.
```
curl 'http://mehari:8080/seqvars/csq?genome_release=grch37&chromosome=MT&position=73&reference=A&alternati…
-
These are tasks to refine the filtered event table based on feedback from Marcin:
Responsibilities:
Clean-up and aesthetics:
@xanthopoulakis will work on the following:
1. Column order for the…
-
Hi,
I observed that for the variant **1:98348885_G>A**, the HGVSp annotation returned by VEP is **p.C29=**. However, the expected annotation should be **p.R29C**.
This discrepancy might lead to conf…
-
PGKB says they now provide the deconstructed sentences for the clinical annotations in their downloads, so it should be possible to pull out directionality related to the genotype-phenotype associatio…
-
Found a situation where set focus doesn't work. Tested on textual 0.86.3 and 0.83.0.
MRE:
```
from __future__ import annotations
from textual import on
from textual.app import App, ComposeRes…
-
CIViC (Clinical Interpretation of Variants in Cancer) is an open-access, community-driven resource for the clinical interpretation of cancer variants. To enhance Scout’s functionality for somatic vari…
-
**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…
-
**Is your feature request related to a problem? Please describe.**
Some variant calls might be incorrect or need to be adjusted to take multinucleotide variants into account. Currently the user might…
-
## Describe the issue
When using the `--keep_csq` flag and running VEP on a VCF that was previously annotated with VEP, a second `CSQ` field is added to the header, and each variant has a second `INF…
TimD1 updated
3 weeks ago