A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches
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.
| 2025 | |
| Agencia Nacional de Investigación e Innovación | |
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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) |
| _version_ | 1878468986177323008 |
|---|---|
| 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 |
| bitstream.checksum.fl_str_mv | 710ccfef5cb01d54b75d1d847d6b6b7b 1ce5464316e60c6069f1fcef328ce2f2 |
| 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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://hdl.handle.net/20.500.12381/575Organismo 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 |