A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations
Evan Connelly, Bryan J. Laraway, Kathleen R. Mullen, Chris Mungall, Melissa Anne Haendel, 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.
medRxiv · Feb 12, 2026 · PreprintGenetic & Genomic Medicine