Closed bmuchmore closed 9 months ago
Hi Brian,
Thank you for using ClinPrior and asking this question. Unfortunately ClinPrior uses the hgvs protein and hgvc cDNA annotation to predict the variant damage. I didn't know about the runtime limitation due to the hgvs annotation, good to know, but getting the standard nomenclature is an important issue to predict the variant.
Agatha
Hi,
First, thank you for your hard work and the open source software.
Second, VEP published their own recommendations (https://useast.ensembl.org/info/docs/tools/vep/script/vep_other.html) to get things to run faster, and the line that catches my eye is the following:
"Consider if you need to generate HGVS notations (--hgvs); this is a complex annotation step that can add ~50-80% to your runtime."
So, my main question if there any chance we can drop the "--hgvs" flag, but still run ClinPrior?
Thanks.
-Brian