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Enhancing Precision Medicine: An Automatic Pipeline Approach for Exploring Genetic Variant-Disease Literature

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Enhancing Precision Medicine: An Automatic Pipeline Approach for Exploring Genetic Variant-Disease Literature

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dc.contributor.author Contreras-Ochando, Lidia es_ES
dc.contributor.author Marco-García, Pere es_ES
dc.contributor.author León-Palacio, Ana es_ES
dc.contributor.author Hurtado Oliver, Lluis Felip es_ES
dc.contributor.author Pla Santamaría, Ferran es_ES
dc.contributor.author Segarra Soriano, Encarnación es_ES
dc.date.accessioned 2023-12-22T07:14:00Z
dc.date.available 2023-12-22T07:14:00Z
dc.date.issued 2023-10-27 es_ES
dc.identifier.isbn 978-3-031-47111-7 es_ES
dc.identifier.issn 0302-9743 es_ES
dc.identifier.uri http://hdl.handle.net/10251/201059
dc.description.abstract [EN] Advancements in genomics have generated vast amounts of data, requiring efficient methods for exploring the relationships between genetic variants and diseases. This paper presents a pipeline approach that automatically integrates diverse biomedical databases, including NCBI Gene, MeSH, LitVar2, PubTator, and SynVar, for retrieving comprehensive information about genes, variants, diseases, and associated literature. The pipeline consists of multiple stages: querying and searching across the different databases, extracting relevant data, and applying filters to refine the results. Its goal is to bridge the gap in information retrieval related to genetic variants and diseases by providing a systematic framework for discovering relevant literature. The pipeline uses open-access sources to uncover additional articles not referenced in expert reports that mention the genetic variants of interest. In this paper, we present the methodology of the pipeline, discuss its limitations and highlight its potential for advancing information systems, data management, and interoperability in the domains of genomics and precision medicine. es_ES
dc.description.sponsorship This work is partially supported by MCIN/AEI/10.13039/501100011033, by the 'European Union' and 'NextGenerationEU/MRR', and by 'ERDF A way of making Europe' under grants PDC2021-120846-C44 and PID2021-126061OB-C41. It is also partially supported by the Generalitat Valenciana underproject CIPROM/2021/023. We would like to thank the authors of LitVar2 for their valuable assistance. es_ES
dc.language Inglés es_ES
dc.publisher Springer Cham es_ES
dc.relation.ispartof Advances in Conceptual Modeling es_ES
dc.rights Reserva de todos los derechos es_ES
dc.subject Genomic variant-disease literature es_ES
dc.subject Precision medicine es_ES
dc.subject Knowledge integration es_ES
dc.subject.classification LENGUAJES Y SISTEMAS INFORMATICOS es_ES
dc.title Enhancing Precision Medicine: An Automatic Pipeline Approach for Exploring Genetic Variant-Disease Literature es_ES
dc.type Comunicación en congreso es_ES
dc.type Artículo es_ES
dc.type Capítulo de libro es_ES
dc.identifier.doi 10.1007/978-3-031-47112-4_4 es_ES
dc.relation.projectID info:eu-repo/grantAgreement/UPV-VIN//AYUDA PAID-11-21//BEWORD: Descubriendo el significado y la intención más allá de la palabra hablada: hacia un entorno inteligente para abordar los documentos multimedia/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement///PDC2021-120846-C44//DESARROLLO DE UN PROTOTIPO PREOMPETITIVO PARA EL ANÁLISIS AFECTIVO DE INFORMACIÓN MULTIMEDIA- UPV/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement///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//PID2021-126061OB-C41/ es_ES
dc.rights.accessRights Abierto es_ES
dc.contributor.affiliation Universitat Politècnica de València. Departamento de Sistemas Informáticos y Computación - Departament de Sistemes Informàtics i Computació es_ES
dc.contributor.affiliation Universitat Politècnica de València. Escola Tècnica Superior d'Enginyeria Informàtica es_ES
dc.description.bibliographicCitation Contreras-Ochando, L.; Marco-García, P.; León-Palacio, A.; Hurtado Oliver, LF.; Pla Santamaría, F.; Segarra Soriano, E. (2023). Enhancing Precision Medicine: An Automatic Pipeline Approach for Exploring Genetic Variant-Disease Literature. Springer Cham. 35-43. https://doi.org/10.1007/978-3-031-47112-4_4 es_ES
dc.description.accrualMethod S es_ES
dc.relation.conferencename 4th International Workshop on Conceptual Modeling for Life Sciences (CMLS 2023) es_ES
dc.relation.conferencedate Noviembre 06-06,2023 es_ES
dc.relation.conferenceplace Lisbon, Portugal es_ES
dc.relation.publisherversion https://doi.org/10.1007/978-3-031-47112-4_4 es_ES
dc.description.upvformatpinicio 35 es_ES
dc.description.upvformatpfin 43 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.relation.pasarela S\502411 es_ES
dc.contributor.funder European Commission es_ES
dc.contributor.funder Agencia Estatal de Investigación es_ES
dc.contributor.funder European Regional Development Fund es_ES
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