Comparison of MMSplice pathogenicity scores of benign vs. pathogenic ClinVar variants

Usage

  1. Run pip install -r requirements.txt to install necessary packages.
  2. Extract the data using tar -xjvf data.tar.gz.
  3. Run python run_mmsplice.py to make the predictions for the pathogenicity scores.
  4. Run the notebook to see a visual representation of the data.

Note: this is a short solution to the take-home-task for my application to the Gagneur Lab