Discovering monogenic patients with a confirmed molecular diagnosis in millions of clinical notes with MonoMiner.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published Date: Aug 17, 2022

Abstract

PURPOSE: Cohort building is a powerful foundation for improving clinical care, performing biomedical research, recruiting for clinical trials, and many other applications. We set out to build a cohort of all monogenic patients with a definitive causal gene diagnosis in a 3-million patient hospital system.

Authors

  • David Wei Wu
    Department of Computer Science, Stanford University School of Engineering, Stanford, CA; Medical Scientist Training Program, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
  • Jonathan A Bernstein
    Division of Immunology, Allergy & Rheumatology, Department of Internal Medicine, University of Cincinnati, Cincinnati, OH, United States.
  • Gill Bejerano
    Department of Computer Science, Stanford School of Engineering, Stanford, CA, USA. bejerano@stanford.edu.

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