PRESR: PREdictor of STXBP1 Related disorder
A machine learning-based predictor of variant pathogenicity in STXBP1
Access the Shiny-based webApp here
Run the workflow
cd scripts/ML
./run.py
Gurdeep Singh: [email protected] (Russell lab, Heidelberg, Germany)
Annemiek A. van Berkel: [email protected] (Verhage lab, Amsterdam, Netherlands)
Timon André: [email protected] (Söllner lab, Heidelberg, Germany)