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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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第一作者: Justin T,Reese
第一单位: Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.;Monarch Initiative.
作者单位: Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.;Monarch Initiative. [1] Monarch Initiative.;Berlin Institute of Health at Charite Universitaetsmedizin Berlin, Berlin, Germany. [2] Monarch Initiative.;William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK. [3] The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA. [4] Monarch Initiative.;University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. [5] ScienceIT, Lawrence Berkeley National Laboratory, Berkeley, CA, USA. [6] Berlin Institute of Health at Charite Universitaetsmedizin Berlin, Berlin, Germany. [7] University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. [8] ScienceIT, 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. [9] Monarch Initiative.;Berlin Institute of Health at Charite Universitaetsmedizin Berlin, Berlin, Germany.;The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.;ELLIS-European Laboratory for Learning and Intelligent Systems. [10]
DOI 10.1101/2024.07.22.24310816
PMID 39108510
发布时间 2026-04-02
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