A systematic assessment of large language models’ knowledge of rare diseases: How much do large language models know about rare disease?
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Tudor Groza
raw_affiliation_strings: Bioinformatics Institute (BII), Agency for Science, Technology and Research (A∗STAR), Singapore, Singapore; Maternal and Child Health Research Institute, KK Women's and Children's Hospital, Singapore, Singapore; Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore. Electronic address: tudorg@a-star.edu.sg
Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), Singapore; Maternal and Child Health Research Institute, KK Women's and Children's Hospital, Singapore; Genetics service, KK Women's and Children's Hospital, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore. Electronic address: tudorg@a-star.edu.sg
raw_author_name: Allison J. Marcello
raw_affiliation_strings: Division of Genetic Medicine, University of Washington, 1959 NE Pacific St, Box 357371, Seattle, WA 98195, USA
raw_author_name: Tristan Carlisle
raw_affiliation_strings: Rare Care Centre, Perth Children's Hospital, Perth, WA, Australia
raw_author_name: Weng Khong Lim
raw_affiliation_strings: SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore; Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Agency for Science, Technology and Research (A∗STAR), Singapore, Singapore
SingHealth Duke-NUS Institute of Precision Medicine, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore; Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore
raw_author_name: Melissa Haendel
raw_affiliation_strings: Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7264, USA
raw_author_name: Neerja Karnani
raw_affiliation_strings: Bioinformatics Institute (BII), Agency for Science, Technology and Research (A∗STAR), Singapore, Singapore; Institute for Human Development and Potential, Agency for Science, Technology and Research (A∗STAR), Singapore, Singapore; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), Singapore; Institute for Human Development and Potential, Agency for Science, Technology and Research (A*STAR), Singapore; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
raw_author_name: Peter N. Robinson
raw_affiliation_strings: Berlin Institute of Health, Berlin, Germany
Berlin Institute of Health, Germany
raw_author_name: Holm Graessner
raw_affiliation_strings: Institute for Medical Genetics and Applied Genomics, Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany
Institute for Medical Genetics and Applied Genomics, Centre for Rare Diseases, University Hospital Tübingen, Germany
raw_author_name: Jessica X. Chong
raw_affiliation_strings: Division of Genetic Medicine, University of Washington, 1959 NE Pacific St, Box 357371, Seattle, WA 98195, USA; Brotman Bay Institute, Seattle, WA 98195, USA
Division of Genetic Medicine, University of Washington, 1959 NE Pacific St, Box 357371, Seattle, WA 98195, USA; Brotman Bay Institute, Seattle, WA, 98195, USA
raw_author_name: Gareth Baynam
raw_affiliation_strings: Rare Care Centre, Perth Children's Hospital, Perth, WA, Australia; International Rare Diseases Research Consortium, Paris, France
raw_author_name: Saumya Shekhar Jamuar
raw_affiliation_strings: Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore; International Rare Diseases Research Consortium, Paris, France
Genetics service, KK Women's and Children's Hospital, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore; International Rare Diseases Research Consortium, Paris, France