PhenoID, a language model normalizer of physical examinations from genetics clinical notes
Davy Weissenbacher, Siddharth Rawal, Xinwei Zhao, Jessica R. C. Priestley, Katherine M. Szigety, Sarah F. Schmidt, Mary J. Higgins, Arjun Magge, Karen O’Connor, Graciela Gonzalez‐Hernandez, Ian M. Campbell
PhenoID is a transformer-based NLP system that normalizes dysmorphology exam findings into HPO terms, achieving state-of-the-art performance on phenotype extraction from clinical notes.
medRxiv · Oct 16, 2023 · PreprintGenetic & Genomic Medicine