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Integration of clinical and genomic data to enhance precision medicine: a case of study applied to the retina-macula

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Integration of clinical and genomic data to enhance precision medicine: a case of study applied to the retina-macula

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dc.contributor.author REYES ROMÁN, JOSÉ FABIÁN es_ES
dc.contributor.author León-Palacio, Ana es_ES
dc.contributor.author García-Simón, Alberto es_ES
dc.contributor.author Cabrera Beyrouti, Ruben es_ES
dc.contributor.author Pastor López, Oscar es_ES
dc.date.accessioned 2023-08-29T18:01:04Z
dc.date.available 2023-08-29T18:01:04Z
dc.date.issued 2023-02 es_ES
dc.identifier.issn 1619-1366 es_ES
dc.identifier.uri http://hdl.handle.net/10251/195755
dc.description.abstract [EN] Age-related macular degeneration is a complex, multifactorial, and neurodegenerative disease that is the third cause of blindness after cataracts and glaucoma. To date, there are no effective remedies available for treating the disease. Therefore, the main goal of the scientific community is to uncover the underlying role that both genetics and environmental factors play in the development of the disease. Nevertheless, the complexity of the domain, the heterogeneity of the information, and the massive amounts of existing data hinder the daily work of clinical experts to provide an accurate diagnosis and treatment. In this work, we present how clinicians can benefit from the development of ontologically well-grounded information systems to support the management of both clinical and genomic data. First, we summarize the results obtained in a previous work that cover the clinical perspective using an information system called G-MAC, that has been specially developed for the management of clinical data. Then, we present the results of an exhaustive study of the genetic factors of age-related macular degeneration by using an information system that was developed with the aim of enhancing the management of complex genomic data. Finally, we state how the connection of both perspectives through the use of conceptual models can benefit clinicians and patients through a more accurate Medicine of Precision. es_ES
dc.description.sponsorship The authors would like to thank the members of the PROS Research Center Genome group for the fruitful discussions regarding the application of CM in the medical field. This work was supported by the Valencian Innovation Agency and Innovation through the OGMIOS project (INNEST/2021/57), the Preparatory Action-UPVFISABIO (A36-G-MAC, 2019), the Generalitat Valenciana through the CoMoDiD project (CIPROM/2021/023), and the Spanish State Research Agency through the DELFOS (PDC2021-121243-I00) and SREC (PID2021-123824OB-I00) projects, MICIN/AEI/10.13039/501 100011033 and co-financed with ERDF and the European Union Next Generation EU/PRTR. es_ES
dc.language Inglés es_ES
dc.publisher Springer-Verlag es_ES
dc.relation.ispartof Software & Systems Modeling es_ES
dc.rights Reserva de todos los derechos es_ES
dc.subject Conceptual modeling es_ES
dc.subject Information systems es_ES
dc.subject Precision medicine es_ES
dc.subject Age-related macular degeneration es_ES
dc.subject Genomics es_ES
dc.subject.classification LENGUAJES Y SISTEMAS INFORMATICOS es_ES
dc.title Integration of clinical and genomic data to enhance precision medicine: a case of study applied to the retina-macula es_ES
dc.type Artículo es_ES
dc.identifier.doi 10.1007/s10270-022-01039-4 es_ES
dc.relation.projectID info:eu-repo/grantAgreement/AGENCIA ESTATAL DE INVESTIGACION//PDC2021-121243-I00//PLATAFORMA DELFOS: SISTEMA DE INFORMACIÓN PARA LA GESTIÓN DE VARIACIONES GENOMICAS/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/AGENCIA VALENCIANA DE LA INNOVACION//INNEST%2F2021%2F57//SISTEMA INTELIGENTE DE APOYO A LA TOMA DE DECISIONES CLÍNICAS EN MEDICINA DE PRECISIÓN/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/GENERALITAT VALENCIANA//CIPROM%2F2021%2F023//Combining Explainable Artificial Intelligence and Conceptual Modelling for Data Intensive Domains Management/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/AEI//PID2021-123824OB-I00//DESARROLLO ÁGIL DE SISTEMAS DESDE REQUISITOS A CÓDIGO/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/UPV//A36-G-MAC, 2019//Preparatory Action-UPVFISABIO/ es_ES
dc.rights.accessRights Abierto es_ES
dc.contributor.affiliation Universitat Politècnica de València. Escola Tècnica Superior d'Enginyeria Informàtica es_ES
dc.description.bibliographicCitation Reyes Román, JF.; León-Palacio, A.; García-Simón, A.; Cabrera Beyrouti, R.; Pastor López, O. (2023). Integration of clinical and genomic data to enhance precision medicine: a case of study applied to the retina-macula. Software & Systems Modeling. 22(1):159-174. https://doi.org/10.1007/s10270-022-01039-4 es_ES
dc.description.accrualMethod S es_ES
dc.relation.publisherversion https://doi.org/10.1007/s10270-022-01039-4 es_ES
dc.description.upvformatpinicio 159 es_ES
dc.description.upvformatpfin 174 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.description.volume 22 es_ES
dc.description.issue 1 es_ES
dc.relation.pasarela S\474183 es_ES
dc.contributor.funder European Commission es_ES
dc.contributor.funder GENERALITAT VALENCIANA es_ES
dc.contributor.funder AGENCIA ESTATAL DE INVESTIGACION es_ES
dc.contributor.funder European Regional Development Fund es_ES
dc.contributor.funder AGENCIA VALENCIANA DE LA INNOVACION es_ES
dc.contributor.funder Ministerio de Ciencia e Innovación es_ES
dc.contributor.funder Universitat Politècnica de València es_ES
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