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**Describe the bug**
VariantValidator provides incorrect HGVS descriptions for intronic variants. E.g.,
- [`NM_001283009.2:c.1266+3_1266+80del`](https://variantvalidator.org/service/validate/?varian…
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annotSV version `3.4`
Hi,
Maybe I'm missing something in the docs, but is there a way to include ensembl IDs and/or HGNC IDs along with gene name in annotSVs output? Here are the columns I have …
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I would like to express my gratitude to the author for developing this annotation tool for SV (Structural Variant) files in Annotsv format. It has made it convenient for me to filter and analyze. Rece…
lpsyy updated
5 months ago
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### Ask a question about GEOS-Chem:
Dear Bob,
I noticed that the online MEGAN would apply annual emission factor (AEF) for some species (e.g., isoprene, beta-pinene) from this DEFAULT file "MEGAN/…
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**Is your feature request related to a problem? Please describe.**
Currently we test the application logic only with unit tests. However, it is important to have integration tests, to ensure the corr…
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running the copy-cannon-env script as described in the readme sets up the default .bashrc file (root/.bashrc). The final 3 lines of this script are:
```
[[ -f ~/.my_personal_settings ]] && . ~/.my…
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**Describe the bug**
In some decision blocks we rely on Termination position of the Variant if it's the frameshift/nonesence one. Currently we use pHGVS attribute for the determination of this, but d…
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Hi, I would like to update Clinvar, Clinvar_ACMG and GnomAD to the latest releases. Do you have specific scripts for the creation of these databases starting from Clinvar XML full release and GnomAD r…
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**Is your feature request related to a problem? Please describe.**
The `geneinfo` app isn't used much anymore, expect for resolving gene panels. This can be done with a call to `annonars`. Double che…
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Discussion from CvC Check in 02/26
Question from Melissa on what are the outcomes from this project so far - in relation to the number of conflicts in ClinVar that have been solved due to the CvC wor…