The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.
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| Title: | The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients. |
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| Authors: | Kafkas Ş; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. senay.kafkas@kaust.edu.sa.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. senay.kafkas@kaust.edu.sa., Abdelhakim M; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia., Althagafi A; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; Computer Science Department, College of Computers and Information Technology, Taif University, 26571, Taif, Saudi Arabia., Toonsi S; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Generative AI, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia., Alghamdi M; Medical Genetic Division, Department of Pediatrics, College of Medicine, King Saud University, 11461, Riyadh, Saudi Arabia., Schofield PN; Department of Physiology, Development & Neuroscience, University of Cambridge, Cambridge, CB2 3EG, UK., Hoehndorf R; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; KAUST Center of Excellence for Generative AI, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa. |
| Source: | Scientific reports [Sci Rep] 2025 Apr 29; Vol. 15 (1), pp. 15093. Date of Electronic Publication: 2025 Apr 29. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2045-2322 |
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| DOI: | 10.1038/s41598-025-99539-y |
