Development of Methods to Improve the Identification of Patients with Rare or Underdiagnosed Diseases in Distributed Research Networks (Rare Disease)

PI(s): Dan Herman, University of Pennsylvania

Purpose: In this study, the research team is developing methods for creating computable phenotypes -- or sets of markers such as symptoms or physical traits -- for rare diseases with machine learning. Machine learning uses data to learn how to perform tasks with little or no human input.

Study Design: PaTH Data only Observational

PCORnet® Partners:

  • University of Pennsylvania
  • Vanderbilt University (STAR)

PaTH Partners:

  • University of Michigan, James Brian Byrd
  • University of Pittsburgh, Kathleen McTigue

Sponsor: PCORI®

Coordinating Center: University of Pennsylvania

Study Website

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