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Vol. 225. Issue 7.
(August - September 2025)
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Vol. 225. Issue 7.
(August - September 2025)
Correspondence

The future impact of advanced imaging and artificial intelligence on the diagnosis and R&D of rare diseases

El impacto futuro de la imagen avanzada y la inteligencia artificial en el diagnóstico e I+D de las enfermedades raras
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M. Moreno-Higuerasa, G. Fatoul-Del Pinoa, S. García-Linaresb, T. Martín-Noguerolc,
Corresponding author
t.martin.f@htmedica.com

Corresponding author.
a Consulta de Enfermedades Minoritarias, Unidad de Gestión Clínica Medicina Interna, Unidad Multidisciplinar de Enfermedades Minoritarias, Hospital Universitario Clínico San Cecilio, Granada, Spain
b Área Análisis Clínicos, Unidad de Gestión Clínica Laboratorios-Sección de Genética, Hospital Universitario Clínico San Cecilio, Granada, Spain
c MRI Unit, Radiology Department, HT Médica, Jaén, Spain
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References
[1]
J. Lord, D. Baralle.
Splicing in the diagnosis of rare disease: advances and challenges.
[2]
T. Martín-Noguerol, O.L. Casado-Verdugo, L.S. Beltrán, G. Aguilar, A. Luna.
Role of advanced MRI techniques for sacroiliitis assessment and quantification.
[3]
A. Visibelli, B. Roncaglia, O. Spiga, A. Santucci.
The impact of artificial intelligence in the odyssey of rare diseases.
[4]
M. Guevara, S. Chen, S. Thomas, T.L. Chaunzwa, I. Franco, B.H. Kann, et al.
Large language models to identify social determinants of health in electronic health records.
[5]
C. Martínez-deMiguel, I. Segura-Bedmar, E. Chacón-Solano, S. Guerrero-Aspizua.
The RareDis corpus: a corpus annotated with rare diseases, their signs and symptoms.
[6]
H.J. Aerts.
The potential of radiomic-based phenotyping in precision medicine: a review.
JAMA Oncol, 2 (2016), pp. 1636-1642
[7]
C.F. Wright, D.R. FitzPatrick, H.V. Firth.
Paediatric genomics: diagnosing rare disease in children.
Nat Rev Genet, 19 (2018), pp. 253-268
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