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PSEA: a phenotype-driven prioritizer for next-generation sequencing with high tolerance to phenotypic noise

Install

  1. obtain the source code or install from pip
    git clone https://github.com/zhonghua-wang/psea.git
    or install from pip (TODO)
    pip install psea
  2. install requirements (python3)
    pip install requirements.txt
  3. Download and build datasets
    python -m psea download-hpo
    python -m psea build # This step may take a few hours

usage

Please refer to the notebook.