Genetic & Genomic MedicinemedRxivPreprint
A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations
Evan Connelly, Bryan J. Laraway, Kathleen R. Mullen…·Eric G. Hurwitz
The paper develops a comprehensive HPO profile for Fanconi anemia by integrating clinical guidelines and LLM-based ontology extraction, identifying significant gaps in existing annotations.
DOI 10.64898/2026.02.10.26346018