A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases.

Roman-Naranjo, P; Parra-Perez, A M; Lopez-Escamez, J A

Roman-Naranjo, P; Parra-Perez, A M; Lopez-Escamez, J A.

Afiliación

Roman-Naranjo P; Division of Otolaryngology, Department of Surgery, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, Granada, Spain; Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer, University of Granada, Junta de Andalucía, PTS, Granada, Spain; Sensorineural Pathology Programme, Centro de Investigación Biomédica en Red en Enfermedades Raras, CIBERER, Madrid, Spain. Electronic address: romanjo@ugr.es.
Parra-Perez AM; Division of Otolaryngology, Department of Surgery, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, Granada, Spain; Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer, University of Granada, Junta de Andalucía, PTS, Granada, Spain; Sensorineural Pathology Programme, Centro de Investigación Biomédica en Red en Enfermedades Raras, CIBERER, Madrid, Spain. Electronic address: alberto.parra@g
Lopez-Escamez JA; Meniere's Disease Neuroscience Research Program, Faculty of Medicine & Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Sydney, New South Wales, Australia; Division of Otolaryngology, Department of Surgery, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, Granada, Spain; Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer, University of Granada, Junta d

J Biomed Inform ; 143: 104429, 2023 07.

Article en En | MEDLINE | ID: mdl-37352901

Asunto(s)

Aprendizaje Automático; Enfermedades Raras; Humanos; Enfermedades Raras/diagnóstico; Enfermedades Raras/genética; Algoritmos; Genómica/métodos; Pronóstico

Palabras clave

Artificial intelligence; DNA-sequencing; Genomics; Precision medicine; Rare diseases; Rare variants

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Raras / Aprendizaje Automático Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: J Biomed Inform Asunto de la revista: INFORMATICA MEDICA Año: 2023 Tipo del documento: Article

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google