Genetic & Genomic MedicinemedRxivPreprint
Early identification of rare disease using deep phenotyping of electronic health records
Tate Tunstall, Pauline C. Ng, Lindsay Meyers…·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.
DOI 10.64898/2026.09.11.26362811