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Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative
Karmen Trzupek1, Ravi Bhargava2, Cynthia Kuan1
1Global Genes, 1012 14th Street NW, Washington, DC 20005, USA.
HGG Advances
|June 1, 2025
Abstract
None:
Trzupek et al. describe a rare disease Open Science Data Challenge, using data collected systematically on RARE-X across 27 neurodevelopmental disorders. Clinical diagnoses, symptoms, genetic data, and PROs were included. Researchers and statisticians generated solutions that identified previously underappreciated symptoms and used machine learning to test predictive models for diagnosis.
