-
**Is your feature request related to a problem? Please describe.**
For exome cases often a second look should be performed by another investigator. Currently the second investigator will directly s…
-
## Improvement requested
commit: 1f47fb24a338c4159d2b075a3eaf3e2877b7340d
Tasks
- [x] (1) ACMG prediction in `Molecular Consequence` should also be the short alias
- [x] (2) Rename `ACMG` to `A…
pamag updated
2 years ago
-
**Describe the bug**
Classifying a variant using benign criteria (BA/BS/BP) results in an wrong grade if 1 BS and 1 BP is used. According to Richards et al 2015 this should result in a *likely benign…
-
I try to run the demo case, but failed to generate the report. Could you please help me to solve the problem?
```
cpsr \
--input_vcf /home/azureuser/src/cpsr/examples/example.vcf.gz \
…
-
### Ask a question about GEOS-Chem:
Hello GEOS-Chem Community & Friends,
I would be very happy for information / experiences about HPC and typical CPU resources required for running GEOS-Chem Asia n…
-
From an email from ClinVar to all the API submitter:
- We will move 'assertionCriteria' to the top level. Note that only one assertion criteria (a citation or a file) may be provided for a submissi…
-
**Describe the bug**
Error returned with TranscriptMapper when Ensembl transcript is selected.
**To Reproduce**
```python
import json
import VariantValidator
vval = VariantValidator.Validator(…
-
Show (recent) event activity for a user, making it easy to get back to a case/analysis recently done, or remembering that case with that pinned variant in whatever gene.
-
-
## Feature improvement description
In the Variant Browser the edit of the variant subrow for clinical_evidence needs to be changed
### Current view:
![image](https://user-images.githubuserconte…
pamag updated
2 years ago