@misc{indiciaeafc25c134c4a,
  title = {Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools},
  author = {Reese, Justin T. [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)] (ORCID:0000000221702250) and Chimirri, Leonardo [Charité Universitätsmedizin Berlin (Germany)] (ORCID:0000000269128518) and Bridges, Yasemin [Queen Mary University of London (United Kingdom)] and Danis, Daniel [Charité Universitätsmedizin Berlin (Germany)] and Caufield, J. Harry [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)] (ORCID:0000000157057831) and Gargano, Michael A. [Jackson Laboratory for Genomic Medicine, Farmington, CT (United States)] and Kroll, Carlo [Queen Mary University of London (United Kingdom)] and Schmeder, Andrew [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)] and Liu, Fengchen [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)] and Wissink, Kyran [Charité Universitätsmedizin Berlin (Germany)] and McMurry, Julie A. [University of North Carolina, Chapel Hill, NC (United States)] (ORCID:0000000293535498) and Graefe, Adam S. L. [Charité Universitätsmedizin Berlin (Germany)] and Niyonkuru, Enock [Jackson Laboratory for Genomic Medicine, Farmington, CT (United States)] and Korn, Daniel R. [University of North Carolina, Chapel Hill, NC (United States)] and 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) and Valentini, Giorgio [Università degli Studi di Milano (Italy); European Laboratory for Learning and Intelligent Systems (ELLIS), Milan (Italy)] (ORCID:0000000256943919) and Jacobsen, Julius O. B. [Queen Mary University of London (United Kingdom)] and Haendel, Melissa [University of North Carolina, Chapel Hill, NC (United States)] (ORCID:0000000191148737) and Smedley, Damian [Queen Mary University of London (United Kingdom)] (ORCID:0000000258369850) and Mungall, Christopher J. [Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)] and 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)},
  year = {2026},
  doi = {10.1038/s41431-026-02054-5},
  url = {https://www.osti.gov/biblio/3029007},
  note = {Source identifier: 3029007}
}