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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.
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
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  Data: Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.
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  Data: <searchLink fieldCode="AU" term="%22Chimirri+L%22">Chimirri L</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Caufield+JH%22">Caufield JH</searchLink>; Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bridges+Y%22">Bridges Y</searchLink>; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Matentzoglu+N%22">Matentzoglu N</searchLink>; Semanticly, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Gargano+M%22">Gargano M</searchLink>; The Jackson Laboratory for Genomic Medicine, Farmington CT, USA.<br /><searchLink fieldCode="AU" term="%22Cazalla+M%22">Cazalla M</searchLink>; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Chen+S%22">Chen S</searchLink>; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Danis+D%22">Danis D</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Dingemans+AJM%22">Dingemans AJM</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gehle+K%22">Gehle K</searchLink>; Medical University of Gdansk, ul. M. Skłodowskiej-Curie 3a, 80-210, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Gehle+P%22">Gehle P</searchLink>; Deutsches Herzzentrum der Charité, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Graefe+ASL%22">Graefe ASL</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Gu+W%22">Gu W</searchLink>; Chinese HPO Consortium, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Ladewig+MS%22">Ladewig MS</searchLink>; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.<br /><searchLink fieldCode="AU" term="%22Lapunzina+P%22">Lapunzina P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nevado+J%22">Nevado J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Niyonkuru+E%22">Niyonkuru E</searchLink>; Lawrence Berkeley National Laboratory, Berkeley, CA, USA; Trinity College, Hartford, CT, USA.<br /><searchLink fieldCode="AU" term="%22Ogishima+S%22">Ogishima S</searchLink>; INGEM/ToMMo, Tohoku University, Miyagi, Japan.<br /><searchLink fieldCode="AU" term="%22Seelow+D%22">Seelow D</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Tenorio+Castaño+JA%22">Tenorio Castaño JA</searchLink>; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Turnovec+M%22">Turnovec M</searchLink>; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wang+K%22">Wang K</searchLink>; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Wissink+K%22">Wissink K</searchLink>; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany; Utrecht University, Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Yüksel+Z%22">Yüksel Z</searchLink>; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany.<br /><searchLink fieldCode="AU" term="%22Zucca+G%22">Zucca G</searchLink>; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo' - Trieste, Trieste, 34137, Italy.<br /><searchLink fieldCode="AU" term="%22Haendel+MA%22">Haendel MA</searchLink>; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Mungall+CJ%22">Mungall CJ</searchLink>; Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Reese+J%22">Reese J</searchLink>; Lawrence Berkeley National Laboratory, Berkeley, CA, USA. Electronic address: justinreese@lbl.gov.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101647039%22">EBioMedicine</searchLink> [EBioMedicine] 2025 Nov; Vol. 121, pp. 105957. <i>Date of Electronic Publication: </i>2025 Oct 14.
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