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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

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