PRP: Pathogenic Risk Prediction for Rare Nonsynonymous Single Nucleotide Variants

Notes

• The training dataset and three test datasets associated with the publication are available under the '00.dataset'
  OR get it from Zenodo.
• PRP model are available under the '02.code' folders, with names PRP_model.pkl.
• The PRP performance comparison associated with the publication is available under the '02.code' folders, with names 02.performance.ipynb.
• The PRP scores are available under the '03.PRP_score' folders.
• For user convenience, a web interface will be provided, offering access to the PRP scores, biological annotations for variants, and decision plots for prediction interpretation

library

library	version	library	version	library	version	library	version
CatBoost	v1.2.5	LightGBM	v4.1.0	Optuna	v3.6.1	scikit-learn	v1.2.2
Shap	v0.45.0	Tabnet	v4.1.0	Torch	v2.3.0	XGBoost	v2.0.3

Contact

goslak97@snu.ac.kr