Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
NHGRI 5U24HG011449, 5RM1HG010860, R01HD103805 and R24OD011883. P.N.R. was supported by a Professorship of the Alexander von Humboldt Foundation; P.L. was supported by a National Grant (PMP21/00063 ONTOPREC-ISCIII, Fondos FEDER). C.M., J.R. and J.H.C. were supported in part by the Director, Office of Science, Office of Basic Energy Sciences, of the US Department of Energy (Contract No. DE-AC0205CH11231).
Authors
- Chris Mungall (ORCID: https://orcid.org/0000-0002-6601-2165)
- Petra Gehle (ORCID: https://orcid.org/0000-0002-0652-8098)
- Marek Turnovec (ORCID: https://orcid.org/0000-0001-9497-3919)
- Markus S. Ladewig (ORCID: https://orcid.org/0000-0002-6601-4486)
- Pablo Lapunzina (ORCID: https://orcid.org/0000-0002-6324-4825)
- Peter N. Robinson (ORCID: https://orcid.org/0000-0002-0736-9199)
- J. Harry Caufield (ORCID: https://orcid.org/0000-0001-5705-7831)
- Nicolas Matentzoglu
- Daniel Daniš (ORCID: https://orcid.org/0000-0003-0900-3411)
- Soichi Ogishima (ORCID: https://orcid.org/0000-0001-8613-2562)
- Michael Gargano (ORCID: https://orcid.org/0000-0002-2157-3591)
- Alexander J.M. Dingemans (ORCID: https://orcid.org/0000-0002-5648-2155)
- Zafer Yüksel (ORCID: https://orcid.org/0000-0002-2085-5773)
- Melissa Haendel (ORCID: https://orcid.org/0000-0001-9114-8737)
- Julián Nevado (ORCID: https://orcid.org/0000-0001-5611-2659)
- Gabriele Zucca (ORCID: https://orcid.org/0000-0003-4174-0526)
- Dominik Seelow (ORCID: https://orcid.org/0000-0002-9746-4412)
- Bert B.A. de Vries (ORCID: https://orcid.org/0000-0002-0000-2917)
- Justin Reese (ORCID: https://orcid.org/0000-0002-2170-2250)
- Jair Tenorio (ORCID: https://orcid.org/0000-0002-5308-2316)
- Leonardo Chimirri (ORCID: https://orcid.org/0000-0002-6912-8518)
- Yasemin Bridges (ORCID: https://orcid.org/0009-0002-1371-3782)
- Mario Cazalla (ORCID: https://orcid.org/0009-0007-1931-0390)
- Enock Niyonkuru (ORCID: https://orcid.org/0000-0002-7981-8133)
- Adam S L Graefe (ORCID: https://orcid.org/0009-0004-8124-8864)
- Kyran Wissink
- Kai Wang (ORCID: https://orcid.org/0000-0002-5585-982X)
- Weihong Gu
- Shihan Chen (ORCID: https://orcid.org/0000-0001-9790-3174)
- Klara Gehle
Institutions
- University of North Carolina at Chapel Hill (US)
- Radboud University Nijmegen (NL)
- Lawrence Berkeley National Laboratory (US)
- Queen Mary University of London (GB)
- Beijing University of Chinese Medicine (CN)
- Charles University (CZ)
- IRCCS Materno Infantile Burlo Garofolo (IT)
- Hospital Universitario La Paz (ES)
- Radboud University Medical Center (NL)
- Tohoku University Hospital (JP)
- Deutsches Herzzentrum der Charité (DE)
- Centro de Investigación Biomédica en Red (ES)
- Jackson Laboratory (US)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- William Harvey Research Institute (GB)
- Instituto de Investigación de Enfermedades Raras (ES)
- Gdańsk Medical University (PL)
- Charité - Universitätsmedizin Berlin (DE)
- University of Pennsylvania (US)
Publication Details
- Journal
- EBioMedicine
- Published
- 2025-10-15
- DOI
- https://doi.org/10.1016/j.ebiom.2025.105957
- Citations
- 4
- Primary Topic
- Biomedical Text Mining and Ontologies
- Type
- article
- Field-Weighted Citation Impact
- 3.22
Funders
- U.S. Department of Energy
- Alexander von Humboldt-Stiftung
- National Institutes of Health
- Office of Science
- Instituto de Salud Carlos III
- National Human Genome Research Institute
- Basic Energy Sciences