A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches

Rolando, Matías - Raggio, Victor - Naya, Hugo - Cagnina, Leticia - Spangenberg, Lucía

Resumen:

Rare diseases (RDs) are a group of pathologies that individually affect less than 1 in 2000 people but collectively impact around 7% of the world's population. Most of them affect children, are chronic and progressive, and have no specific treatment. RD patients face diagnostic challenges, with an average diagnosis time of 5 years, multiple specialist visits, and invasive procedures. This 'diagnostic odyssey' can be detrimental to their health. Machine learning (ML) has the potential to improve healthcare by providing more personalized and accurate patient management, diagnoses, and in some cases, treatments. Leveraging the MIMIC-III database and additional medical notes from different sources such as in-house data, PubMed and chatGPT, we propose a labeled dataset for early RD detection in hospital settings. Applying various supervised ML methods, including logistic regression, decision trees, support vector machine (SVM), deep learning methods (LSTM and CNN), and Transformers (BERT), we validated the use of the proposed resource, achieving 92.7% F-measure and a 96% AUC using SVM. These findings highlight the potential of ML in redirecting RD patients towards more accurate diagnostic pathways and presents a corpus that can be used for future development and refinements.

Detalles Bibliográficos
2025
Agencia Nacional de Investigación e Innovación
aprendizaje automático
historias clínicas
Ciencias Naturales y Exactas
Ciencias de la Computación e Información
Ciencias de la Información y Bioinformática
Inglés
Institut Pasteur de Montevideo
IPMON en REDI
https://hdl.handle.net/20.500.12381/4061
https://doi.org/10.1038/s41598-025-90450-0
Acceso abierto
Reconocimiento 4.0 Internacional. (CC BY)
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author Rolando, Matías
author2 Raggio, Victor
Naya, Hugo
Cagnina, Leticia
Spangenberg, Lucía
author2_role author
author
author
author
author_facet Rolando, Matías
Raggio, Victor
Naya, Hugo
Cagnina, Leticia
Spangenberg, Lucía
author_role author
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bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
bitstream.url.fl_str_mv https://redi.anii.org.uy/jspui/bitstream/20.500.12381/4061/2/license.txt
https://redi.anii.org.uy/jspui/bitstream/20.500.12381/4061/1/41598_2025_Article_90450.pdf
collection IPMON en REDI
dc.creator.none.fl_str_mv Rolando, Matías
Raggio, Victor
Naya, Hugo
Cagnina, Leticia
Spangenberg, Lucía
dc.date.accessioned.none.fl_str_mv 2025-06-11T17:24:40Z
dc.date.available.none.fl_str_mv 2025-06-11T17:24:40Z
dc.date.issued.none.fl_str_mv 2025-02
dc.description.abstract.none.fl_txt_mv Rare diseases (RDs) are a group of pathologies that individually affect less than 1 in 2000 people but collectively impact around 7% of the world's population. Most of them affect children, are chronic and progressive, and have no specific treatment. RD patients face diagnostic challenges, with an average diagnosis time of 5 years, multiple specialist visits, and invasive procedures. This 'diagnostic odyssey' can be detrimental to their health. Machine learning (ML) has the potential to improve healthcare by providing more personalized and accurate patient management, diagnoses, and in some cases, treatments. Leveraging the MIMIC-III database and additional medical notes from different sources such as in-house data, PubMed and chatGPT, we propose a labeled dataset for early RD detection in hospital settings. Applying various supervised ML methods, including logistic regression, decision trees, support vector machine (SVM), deep learning methods (LSTM and CNN), and Transformers (BERT), we validated the use of the proposed resource, achieving 92.7% F-measure and a 96% AUC using SVM. These findings highlight the potential of ML in redirecting RD patients towards more accurate diagnostic pathways and presents a corpus that can be used for future development and refinements.
dc.description.sponsorship.none.fl_txt_mv Agencia Nacional de Investigación e Innovación
dc.identifier.anii.es.fl_str_mv FSS_X_2022_1_173209
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1038/s41598-025-90450-0
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12381/4061
dc.language.iso.none.fl_str_mv eng
dc.publisher.es.fl_str_mv Nature Portfolio
dc.rights.*.fl_str_mv Acceso abierto
dc.rights.license.none.fl_str_mv Reconocimiento 4.0 Internacional. (CC BY)
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
dc.source.es.fl_str_mv Scientific Reports
dc.source.none.fl_str_mv reponame:IPMON en REDI
instname:Institut Pasteur de Montevideo
instacron:Institut Pasteur de Montevideo
dc.subject.anii.none.fl_str_mv Ciencias Naturales y Exactas
Ciencias de la Computación e Información
Ciencias de la Información y Bioinformática
dc.subject.es.fl_str_mv aprendizaje automático
historias clínicas
dc.title.none.fl_str_mv A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
dc.type.es.fl_str_mv Artículo
dc.type.none.fl_str_mv info:eu-repo/semantics/article
dc.type.version.es.fl_str_mv Publicado
dc.type.version.none.fl_str_mv info:eu-repo/semantics/publishedVersion
description Rare diseases (RDs) are a group of pathologies that individually affect less than 1 in 2000 people but collectively impact around 7% of the world's population. Most of them affect children, are chronic and progressive, and have no specific treatment. RD patients face diagnostic challenges, with an average diagnosis time of 5 years, multiple specialist visits, and invasive procedures. This 'diagnostic odyssey' can be detrimental to their health. Machine learning (ML) has the potential to improve healthcare by providing more personalized and accurate patient management, diagnoses, and in some cases, treatments. Leveraging the MIMIC-III database and additional medical notes from different sources such as in-house data, PubMed and chatGPT, we propose a labeled dataset for early RD detection in hospital settings. Applying various supervised ML methods, including logistic regression, decision trees, support vector machine (SVM), deep learning methods (LSTM and CNN), and Transformers (BERT), we validated the use of the proposed resource, achieving 92.7% F-measure and a 96% AUC using SVM. These findings highlight the potential of ML in redirecting RD patients towards more accurate diagnostic pathways and presents a corpus that can be used for future development and refinements.
eu_rights_str_mv openAccess
format article
id IPMON_2530d8aecf6fa36aab3a7e9931f52978
identifier_str_mv FSS_X_2022_1_173209
instacron_str Institut Pasteur de Montevideo
institution Institut Pasteur de Montevideo
instname_str Institut Pasteur de Montevideo
language eng
network_acronym_str IPMON
network_name_str IPMON en REDI
oai_identifier_str oai:redi.anii.org.uy:20.500.12381/4061
publishDate 2025
reponame_str IPMON en REDI
repository.mail.fl_str_mv msarroca@pasteur.edu.uy
repository.name.fl_str_mv IPMON en REDI - Institut Pasteur de Montevideo
repository_id_str 9421_2
rights_invalid_str_mv Reconocimiento 4.0 Internacional. (CC BY)
Acceso abierto
spelling Reconocimiento 4.0 Internacional. (CC BY)Acceso abiertoinfo:eu-repo/semantics/openAccess2025-06-11T17:24:40Z2025-06-11T17:24:40Z2025-02https://hdl.handle.net/20.500.12381/4061FSS_X_2022_1_173209https://doi.org/10.1038/s41598-025-90450-0Rare diseases (RDs) are a group of pathologies that individually affect less than 1 in 2000 people but collectively impact around 7% of the world's population. Most of them affect children, are chronic and progressive, and have no specific treatment. RD patients face diagnostic challenges, with an average diagnosis time of 5 years, multiple specialist visits, and invasive procedures. This 'diagnostic odyssey' can be detrimental to their health. Machine learning (ML) has the potential to improve healthcare by providing more personalized and accurate patient management, diagnoses, and in some cases, treatments. Leveraging the MIMIC-III database and additional medical notes from different sources such as in-house data, PubMed and chatGPT, we propose a labeled dataset for early RD detection in hospital settings. Applying various supervised ML methods, including logistic regression, decision trees, support vector machine (SVM), deep learning methods (LSTM and CNN), and Transformers (BERT), we validated the use of the proposed resource, achieving 92.7% F-measure and a 96% AUC using SVM. These findings highlight the potential of ML in redirecting RD patients towards more accurate diagnostic pathways and presents a corpus that can be used for future development and refinements.Agencia Nacional de Investigación e InnovaciónengNature PortfolioScientific Reportsreponame:IPMON en REDIinstname:Institut Pasteur de Montevideoinstacron:Institut Pasteur de Montevideoaprendizaje automáticohistorias clínicasCiencias Naturales y ExactasCiencias de la Computación e InformaciónCiencias de la Información y BioinformáticaA labeled medical records corpus for the timely detection of rare diseases using machine learning approachesArtículoPublicadoinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleInstitut Pasteur de Montevideo//Ciencias Naturales y Exactas/Ciencias de la Computación e Información/Ciencias de la Información y BioinformáticaRolando, MatíasRaggio, VictorNaya, HugoCagnina, LeticiaSpangenberg, LucíaLICENSElicense.txtlicense.txttext/plain; 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científico-tecnológicohttps://pasteur.uy/https://redi.anii.org.uy/oai/requestmsarroca@pasteur.edu.uyUruguayopendoar:9421_22025-10-28T19:10IPMON en REDI - Institut Pasteur de Montevideofalse
spellingShingle A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
Rolando, Matías
aprendizaje automático
historias clínicas
Ciencias Naturales y Exactas
Ciencias de la Computación e Información
Ciencias de la Información y Bioinformática
status_str publishedVersion
title A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
title_full A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
title_fullStr A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
title_full_unstemmed A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
title_short A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
title_sort A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
topic aprendizaje automático
historias clínicas
Ciencias Naturales y Exactas
Ciencias de la Computación e Información
Ciencias de la Información y Bioinformática
url https://hdl.handle.net/20.500.12381/4061
https://doi.org/10.1038/s41598-025-90450-0