Step 1: Dataset Creation

• Patients dataset: run directly code in dataset_building folder (instructions in the README file)
• Carriers dataset: identify BRCA carriers (carriers_identification folder), build carriers dataset based on them (dataset_building folder)

Step 2: Model Training

• model_training folder, instructions in the README file

Step 3: Performace Plots Generation

• Summary plots and boxplots about model performace are in the generate_plots.ipynb file

Step 4: Interpretation

• ACMG annotation and classification + GISs distribution plots + ECDF plots for ACMG and GISs based scoring in the interpretation folder