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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…
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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…
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**Type**: Feature
**Is your feature request related to a problem? Please describe.**
In our projects we've opted for EventBridge rather than SNS. EventBridge also has a wrapper, similar to that of…
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I have the most previous experience with SnpEff/ClinEff. Do people here have preferences as to which tool if any to run and any non-standard parameters to use?
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Hello -- just learning and may not know sytack -- but the example
```python
up:Disease_Annotation {
a [ up:Disease_Annotation ] ;
up:sequence [ up:Chain_Annotation up:Modified_Sequence ] ;
…
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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…
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**We have MAF data that is failing annotation with genome nexus (see example.csv). We are wondering why it is failing?**
- Please see an example input: [example.csv](https://github.com/genome-nexu…
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Hi,
I am working on annotating large datasets, specifically Whole Genome Sequencing (WGS) VCF files, using the Variant Effect Predictor (VEP). However, the annotation process is taking significantl…
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Hi,
When I use read.maf to read maf file, but almost variants are silent(silent variants/all variants: **16874**/17013).
I am unsure about that is annotation problem or something.
`df = read.ma…
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When I was running ScanNeo2, several samples encountered errors during the VEP annotation process, specifically for the main task of SNVs. The following error occurred for all of them.
localrule ann…