Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.
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| Title: | Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases. |
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| 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, Farmington CT, USA., 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 AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Gehle K; Medical University of Gdansk, ul. M. Skłodowskiej-Curie 3a, 80-210, Gdańsk, Poland., 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., Lapunzina P; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos (ISCIII), Madrid, Spain., Nevado J; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos (ISCIII), 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., Tenorio Castaño JA; 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 BBA; 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, Chapel Hill, NC, USA., Mungall CJ; Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Reese J; Lawrence Berkeley National Laboratory, Berkeley, CA, USA. Electronic address: justinreese@lbl.gov., Robinson PN; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany; The Jackson Laboratory for Genomic Medicine, Farmington CT, USA. Electronic address: peter.robinson@bih-charite.de. |
| Source: | EBioMedicine [EBioMedicine] 2025 Nov; Vol. 121, pp. 105957. Date of Electronic Publication: 2025 Oct 14. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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