PRESR: PREdictor of STXBP1 Related disorder
A machine learning-based predictor of variant pathogenicity in STXBP1
Web application
Access the Shiny-based webApp here
Workflow
Command line
Run the workflow
cd scripts/ML
./run.py
Contact
Gurdeep Singh: gurdeep.singh@bioquant.uni-heidelberg.de (Russell lab, Heidelberg, Germany)
Annemiek A. van Berkel: a.a.van.berkel@vu.nl (Verhage lab, Amsterdam, Netherlands)
Timon André: timon.andre@bzh.uni-heidelberg.de (Söllner lab, Heidelberg, Germany)