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Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

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Title: Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.
Authors: Reese JT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Chimirri L; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany., Bridges Y; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Danis D; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Gargano MA; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA., Kroll C; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Schmeder A; ScienceIT, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Liu F; ScienceIT, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Wissink K; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany., McMurry JA; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Graefe ASL; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany., Niyonkuru E; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA., Korn DR; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Casiraghi E; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano, Italy.; ELLIS-European Laboratory for Learning and Intelligent Systems, Milan UnitMilan Unit, Milan, Italy., Valentini G; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano, Italy.; ELLIS-European Laboratory for Learning and Intelligent Systems, Milan UnitMilan Unit, Milan, Italy., Jacobsen JOB; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Haendel M; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Smedley D; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Robinson PN; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany. peter.robinson@bih-charite.de.; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA. peter.robinson@bih-charite.de.; ELLIS-European Laboratory for Learning and Intelligent Systems, Milan UnitMilan Unit, Milan, Italy. peter.robinson@bih-charite.de.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 498-504. Date of Electronic Publication: 2026 Feb 24.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.
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  Data: <searchLink fieldCode="AU" term="%22Reese+JT%22">Reese JT</searchLink>; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><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="%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="%22Danis+D%22">Danis D</searchLink>; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Caufield+JH%22">Caufield JH</searchLink>; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Gargano+MA%22">Gargano MA</searchLink>; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA.<br /><searchLink fieldCode="AU" term="%22Kroll+C%22">Kroll C</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="%22Schmeder+A%22">Schmeder A</searchLink>; ScienceIT, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Liu+F%22">Liu F</searchLink>; ScienceIT, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Wissink+K%22">Wissink K</searchLink>; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22McMurry+JA%22">McMurry JA</searchLink>; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<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="%22Niyonkuru+E%22">Niyonkuru E</searchLink>; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA.<br /><searchLink fieldCode="AU" term="%22Korn+DR%22">Korn DR</searchLink>; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Casiraghi+E%22">Casiraghi E</searchLink>; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano, Italy.; ELLIS-European Laboratory for Learning and Intelligent Systems, Milan UnitMilan Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Valentini+G%22">Valentini G</searchLink>; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano, Italy.; ELLIS-European Laboratory for Learning and Intelligent Systems, Milan UnitMilan Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Jacobsen+JOB%22">Jacobsen JOB</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="%22Haendel+M%22">Haendel M</searchLink>; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Smedley+D%22">Smedley D</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="%22Mungall+CJ%22">Mungall CJ</searchLink>; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany. peter.robinson@bih-charite.de.; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA. peter.robinson@bih-charite.de.; ELLIS-European Laboratory for Learning and Intelligent Systems, Milan UnitMilan Unit, Milan, Italy. peter.robinson@bih-charite.de.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 498-504. <i>Date of Electronic Publication: </i>2026 Feb 24.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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