Early identification of rare disease using deep phenotyping of electronic health records
Tate Tunstall, Pauline C. Ng, Lindsay Meyers, Maria-Renee Coldagelli, Lu Yang, Naveen Pereira, Mayowa A. Osundiji, Kate Im, Akash Kumar, Matthew Rabinowitz
This study uses machine learning on electronic health records to identify rare genetic disorders early, achieving up to 89% early detection with over a year lead time for some conditions.
medRxiv · Sep 16, 2026 · PreprintGenetic & Genomic Medicine