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11 Dec 2025 BMRC Bioinformatics Institute A systematic assessment of large language models’ knowledge of rare diseases: How much do large language models know about rare disease? (Pending publish) Tudor Groza, Allison J. Marcello, Tristan Carlisle, Weng Khong Lim, Melissa Haendel, Neerja Karnani, Peter N. Robinson, Holm Graessner, Jessica X. Chong, Gareth Baynam, Saumya Shekhar Jamuar Human Genetics and Genomics Advances