Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.

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Title: Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.
Authors: Chimirri L; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Caufield JH; Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Bridges Y; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Matentzoglu N; Semanticly, Athens, Greece., Gargano M; The Jackson Laboratory for Genomic Medicine., Cazalla M; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain., Chen S; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Danis D; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Dingemans AJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Gehle P; Deutsches Herzzentrum der Charité, Berlin, Germany., Graefe ASL; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Gu W; Chinese HPO Consortium, Beijing, China., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany CIBERER-ISCIII, Madrid, Spain., Lapunzina P; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain., Nevado J; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain., Niyonkuru E; Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Trinity College, Hartford, CT, USA., Ogishima S; INGEM/ToMMo, Tohoku University, Miyagi, Japan., Seelow D; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Castaño JAT; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain., Turnovec M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic., de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Wang K; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wissink K; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Utrecht University, Utrecht, Netherlands., Yüksel Z; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany., Zucca G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo' - Trieste, Trieste 34137, Italy., Haendel MA; University of North Carolina at Chapel Hill., Mungall CJ; Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Reese J; Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Robinson PN; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; The Jackson Laboratory for Genomic Medicine.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Feb 28. Date of Electronic Publication: 2025 Feb 28.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
DOI:10.1101/2025.02.26.25322769