Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases.

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Bibliographic Details
Title: Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases.
Authors: Sendtner GW; Clinic of Internal Medicine III, Department of Oncology, Hematology, Rheumatology and Clinical Immunology, University Hospital Bonn, Venusberg Campus 1, 53127, Bonn, Germany. Georg.sendtner@ukbonn.de., Muecke M; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany., Grigull L; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany., Bender T; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany., Behning C; Institute of Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn, Germany., Schäfer VS; Clinic of Internal Medicine III, Department of Oncology, Hematology, Rheumatology and Clinical Immunology, University Hospital Bonn, Venusberg Campus 1, 53127, Bonn, Germany.; Center for Rare Diseases Bonn, University Hospital Bonn, Bonn, Germany.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 05; Vol. 20 (1), pp. 564. Date of Electronic Publication: 2025 Nov 05.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1750-1172
DOI:10.1186/s13023-025-04112-5