TY  - RPRT
TI  - Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
AU  - Reese, Justin T. [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)] (ORCID:0000000221702250)
AU  - Chimirri, Leonardo [Charité Universitätsmedizin Berlin (Germany)] (ORCID:0000000269128518)
AU  - Bridges, Yasemin [Queen Mary University of London (United Kingdom)]
AU  - Danis, Daniel [Charité Universitätsmedizin Berlin (Germany)]
AU  - Caufield, J. Harry [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)] (ORCID:0000000157057831)
AU  - Gargano, Michael A. [Jackson Laboratory for Genomic Medicine, Farmington, CT (United States)]
AU  - Kroll, Carlo [Queen Mary University of London (United Kingdom)]
AU  - Schmeder, Andrew [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)]
AU  - Liu, Fengchen [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)]
AU  - Wissink, Kyran [Charité Universitätsmedizin Berlin (Germany)]
AU  - McMurry, Julie A. [University of North Carolina, Chapel Hill, NC (United States)] (ORCID:0000000293535498)
AU  - Graefe, Adam S. L. [Charité Universitätsmedizin Berlin (Germany)]
AU  - Niyonkuru, Enock [Jackson Laboratory for Genomic Medicine, Farmington, CT (United States)]
AU  - Korn, Daniel R. [University of North Carolina, Chapel Hill, NC (United States)]
AU  - Casiraghi, Elena [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States); Università degli Studi di Milano (Italy); European Laboratory for Learning and Intelligent Systems (ELLIS), Milan (Italy)] (ORCID:0000000320247572)
AU  - Valentini, Giorgio [Università degli Studi di Milano (Italy); European Laboratory for Learning and Intelligent Systems (ELLIS), Milan (Italy)] (ORCID:0000000256943919)
AU  - Jacobsen, Julius O. B. [Queen Mary University of London (United Kingdom)]
AU  - Haendel, Melissa [University of North Carolina, Chapel Hill, NC (United States)] (ORCID:0000000191148737)
AU  - Smedley, Damian [Queen Mary University of London (United Kingdom)] (ORCID:0000000258369850)
AU  - Mungall, Christopher J. [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)]
AU  - Robinson, Peter N. [Charité Universitätsmedizin Berlin (Germany); Jackson Laboratory for Genomic Medicine, Farmington, CT (United States); European Laboratory for Learning and Intelligent Systems (ELLIS), Milan (Italy)] (ORCID:0000000207369199)
PY  - 2026
DO  - 10.1038/s41431-026-02054-5
UR  - https://www.osti.gov/biblio/3029007
ID  - 3029007
ER  -