{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T04:32:11Z","timestamp":1754109131154,"version":"3.37.3"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"S11","license":[{"start":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T00:00:00Z","timestamp":1667952000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T00:00:00Z","timestamp":1667952000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Agencia Valenciana de Innovaci\u00f3n","award":["INNEST\/2021\/57"],"award-info":[{"award-number":["INNEST\/2021\/57"]}]},{"DOI":"10.13039\/501100011596","name":"Conselleria d\u2019Educaci\u00f3, Investigaci\u00f3, Cultura i Esport","doi-asserted-by":"publisher","award":["ACIF\/2021\/117"],"award-info":[{"award-number":["ACIF\/2021\/117"]}],"id":[{"id":"10.13039\/501100011596","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["PDC2021-121243-I00"],"award-info":[{"award-number":["PDC2021-121243-I00"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011596","name":"Conselleria de Innovaci\u00c33n, Universidades, Ciencia y Sociedad Digital, Generalitat Valenciana","doi-asserted-by":"publisher","award":["CIPROM\/2021\/023"],"award-info":[{"award-number":["CIPROM\/2021\/023"]}],"id":[{"id":"10.13039\/501100011596","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008057","name":"Fundaci\u00f3n para la Investigaci\u00f3n del Hospital Universitari La Fe","doi-asserted-by":"publisher","award":["2021\/AP2021-05"],"award-info":[{"award-number":["2021\/AP2021-05"]}],"id":[{"id":"10.13039\/100008057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Precision medicine is a promising approach that has revolutionized disease prevention and individualized treatment. The DELFOS oracle is a model-driven genomics platform that aids clinicians in identifying relevant variations that are associated with diseases. In its previous version, the DELFOS oracle did not consider the high degree of variability of genomics data over time. However, changes in genomics data have had a profound impact on clinicians\u2019 work and pose the need for changing past, present, and future clinical actions. Therefore, our objective in this work is to consider changes in genomics data over time in the DELFOS oracle.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Our objective has been achieved through three steps. First, we studied the characteristics of each database from which the DELFOS oracle extracts data. Second, we characterized which genomics concepts of the conceptual schema that supports the DELFOS oracle change over time. Third, we updated the DELFOS Oracle so that it can manage the temporal dimension. To validate our approach, we carried out a use case to illustrate how the new version of the DELFOS oracle handles the temporal dimension.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three events can change genomics data, namely, the addition of a new variation, the addition of a new link between a variation and a phenotype, and the update of a link between a variation and a phenotype. These events have been linked to the entities of the conceptual model that are affected by them. Finally, a new version of the DELFOS oracle that can deal with the temporal dimension has been implemented.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Huge amounts of genomics data that is associated with diseases change over time, impacting patients\u2019 diagnosis and treatment. Including this information in the DELFOS oracle added an extra layer of complexity, but using a model-driven based approach mitigated the cost of implementing the needed changes. The new version handles the temporal dimension appropriately and eases clinicians\u2019 work.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12859-022-04944-z","type":"journal-article","created":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T20:02:59Z","timestamp":1668024179000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The challenge of managing the evolution of genomics data over time: a conceptual model-based approach"],"prefix":"10.1186","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5910-4363","authenticated-orcid":false,"given":"Alberto","family":"Garc\u00eda S.","sequence":"first","affiliation":[]},{"given":"Mireia","family":"Costa","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Leon","sequence":"additional","affiliation":[]},{"given":"Oscar","family":"Pastor","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2022,11,9]]},"reference":[{"issue":"3","key":"4944_CR1","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1093\/bib\/bbv060","volume":"17","author":"DJ Duffy","year":"2016","unstructured":"Duffy DJ. Problems, challenges and promises: perspectives on precision medicine. Brief Bioinform. 2016;17(3):494\u2013504. https:\/\/doi.org\/10.1093\/bib\/bbv060.","journal-title":"Brief Bioinform"},{"issue":"1","key":"4944_CR2","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1186\/s13059-017-1215-1","volume":"18","author":"Y Hasin","year":"2017","unstructured":"Hasin Y, Seldin M, Lusis A. Multi-omics approaches to disease. Genome Bio. 2017;18(1):83. https:\/\/doi.org\/10.1186\/s13059-017-1215-1.","journal-title":"Genome Bio"},{"issue":"7","key":"4944_CR3","doi-asserted-by":"publisher","first-page":"1002195","DOI":"10.1371\/journal.pbio.1002195","volume":"13","author":"ZD Stephens","year":"2015","unstructured":"Stephens ZD. Big data: astronomical or genomical? PLOS Biol. 2015;13(7):1002195. https:\/\/doi.org\/10.1371\/journal.pbio.1002195.","journal-title":"PLOS Biol"},{"issue":"9","key":"4944_CR4","doi-asserted-by":"publisher","first-page":"1206","DOI":"10.1002\/mgg3.1206","volume":"8","author":"M Vihinen","year":"2020","unstructured":"Vihinen M. Problems in variation interpretation guidelines and in their implementation in computational tools. Mol Genet Genomic Med. 2020;8(9):1206. https:\/\/doi.org\/10.1002\/mgg3.1206.","journal-title":"Mol Genet Genomic Med"},{"issue":"D1","key":"4944_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/nar\/gkaa1216","volume":"49","author":"DJ Rigden","year":"2021","unstructured":"Rigden DJ, Fern\u00e1ndez XM. The 2021 Nucleic Acids Research database issue and the online molecular biology database collection. Nucleic Acids Res. 2021;49(D1):1\u20139. https:\/\/doi.org\/10.1093\/nar\/gkaa1216.","journal-title":"Nucleic Acids Res"},{"key":"4944_CR6","doi-asserted-by":"publisher","unstructured":"Galv\u00e3o J, et al. Automating data integration in adaptive and data-intensive information systems. In: Information systems. Lecture notes in business information processing. Cham: Springer; 2020. pp. 20\u201334 https:\/\/doi.org\/10.1007\/978-3-030-63396-7_2.","DOI":"10.1007\/978-3-030-63396-7_2"},{"key":"4944_CR7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.7250\/csimq.2018-17.01","volume":"17","author":"AL Palacio","year":"2018","unstructured":"Palacio AL, L\u00f3pez OP. Smart data for genomic information systems: the SILE method. Complex Syst Inf Model Q. 2018;17:1\u201323. https:\/\/doi.org\/10.7250\/csimq.2018-17.01.","journal-title":"Complex Syst Inf Model Q"},{"key":"4944_CR8","series-title":"Lecture notes in computer science","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1007\/978-3-030-65847-2_5","volume-title":"Advances in conceptual modeling","author":"M Costa","year":"2020","unstructured":"Costa M, Le\u00f3n A, Pastor O. The importance of the temporal dimension in identifying relevant genomic variants: a case study. In: Grossmann G, Ram S, editors. Advances in conceptual modeling. Lecture notes in computer science. Cham: Springer; 2020. p. 51\u201360. https:\/\/doi.org\/10.1007\/978-3-030-65847-2_5."},{"issue":"12","key":"4944_CR9","doi-asserted-by":"publisher","first-page":"1266","DOI":"10.1001\/jama.2018.13152","volume":"320","author":"JA Mersch","year":"2018","unstructured":"Mersch JA. Prevalence of variant reclassification following hereditary cancer genetic testing. JAMA. 2018;320(12):1266\u201374. https:\/\/doi.org\/10.1001\/jama.2018.13152.","journal-title":"JAMA"},{"issue":"D1","key":"4944_CR10","doi-asserted-by":"publisher","first-page":"1062","DOI":"10.1093\/nar\/gkx1153","volume":"46","author":"MJ Landrum","year":"2018","unstructured":"Landrum MJ, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):1062\u20137. https:\/\/doi.org\/10.1093\/nar\/gkx1153.","journal-title":"Nucleic Acids Res"},{"key":"4944_CR11","doi-asserted-by":"publisher","DOI":"10.1093\/database\/bay119","author":"SE Hunt","year":"2018","unstructured":"Hunt SE, et al. Ensembl variation resources. Database. 2018. https:\/\/doi.org\/10.1093\/database\/bay119.","journal-title":"Database"},{"issue":"D1","key":"4944_CR12","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1093\/nar\/gky1120","volume":"47","author":"A Buniello","year":"2019","unstructured":"Buniello A, et al. The NHGRI-EBI GWAS catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. 2019;47(D1):1005\u201312. https:\/\/doi.org\/10.1093\/nar\/gky1120.","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"4944_CR13","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1093\/nar\/gky1015","volume":"47","author":"JG Tate","year":"2019","unstructured":"Tate JG, et al. COSMIC: the catalogue of somatic mutations in cancer. Nucleic Acids Res. 2019;47(D1):941\u20137. https:\/\/doi.org\/10.1093\/nar\/gky1015.","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"4944_CR14","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1038\/gim.2016.90","volume":"19","author":"R Walsh","year":"2017","unstructured":"Walsh R, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017;19(2):192\u2013203. https:\/\/doi.org\/10.1038\/gim.2016.90.","journal-title":"Genet Med"},{"issue":"10","key":"4944_CR15","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1093\/jnci\/djy075","volume":"110","author":"SE Plon","year":"2018","unstructured":"Plon SE, Rehm HL. The Ancestral pace of variant eeclassification. JNCI J Natl Cancer Inst. 2018;110(10):1133\u20134. https:\/\/doi.org\/10.1093\/jnci\/djy075.","journal-title":"JNCI J Natl Cancer Inst"},{"issue":"4","key":"4944_CR16","doi-asserted-by":"publisher","first-page":"417","DOI":"10.18632\/oncotarget.26501","volume":"10","author":"TP Slavin","year":"2019","unstructured":"Slavin TP, et al. The effects of genomic germline variant reclassification on clinical cancer care. Oncotarget. 2019;10(4):417\u201323. https:\/\/doi.org\/10.18632\/oncotarget.26501.","journal-title":"Oncotarget"},{"issue":"7","key":"4944_CR17","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1038\/s41431-019-0377-6","volume":"27","author":"EK Wong","year":"2019","unstructured":"Wong EK, et al. Perceptions of genetic variant reclassification in patients with inherited cardiac disease. Eur J Hum Genet. 2019;27(7):1134\u201342. https:\/\/doi.org\/10.1038\/s41431-019-0377-6.","journal-title":"Eur J Hum Genet"},{"key":"4944_CR18","doi-asserted-by":"publisher","first-page":"102732","DOI":"10.1016\/j.ebiom.2020.102732","volume":"54","author":"O Campuzano","year":"2020","unstructured":"Campuzano O, et al. Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes. EBioMedicine. 2020;54:102732. https:\/\/doi.org\/10.1016\/j.ebiom.2020.102732.","journal-title":"EBioMedicine"},{"key":"4944_CR19","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01172-3","author":"DT Miller","year":"2021","unstructured":"Miller DT, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021. https:\/\/doi.org\/10.1038\/s41436-021-01172-3.","journal-title":"Genet Med"},{"key":"4944_CR20","doi-asserted-by":"publisher","unstructured":"Palacio AL, L\u00f3pez \u00d3P, R\u00f3denas JCC. A method to identify relevant genome data: conceptual modeling for the medicine of precision. In: Trujillo J, Davis KC, Du X, Li Z, Ling TW, Li G, Lee ML, editors. Conceptual modeling - 37th international conference, ER 2018, Proceedings. Lecture notes in computer science, vol. 11157. Springer; 2018. pp. 597\u2013609. https:\/\/doi.org\/10.1007\/978-3-030-00847-5_44","DOI":"10.1007\/978-3-030-00847-5_44"},{"key":"4944_CR21","series-title":"Communications in computer and information science","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1007\/978-3-319-96553-6_4","volume-title":"Data analytics and management in data intensive domains","author":"S Ceri","year":"2018","unstructured":"Ceri S, Bernasconi A, Canakoglu A, Gulino A, Kaitoua A, Masseroli M, Nanni L, Pinoli P. Overview of GeCo: a project for exploring and integrating signals from the genome. In: Kalinichenko L, Manolopoulos Y, Malkov O, Skvortsov N, Stupnikov S, Sukhomlin V, editors. Data analytics and management in data intensive domains. Communications in computer and information science. Cham: Springer; 2018. p. 46\u201357. https:\/\/doi.org\/10.1007\/978-3-319-96553-6_4."},{"key":"4944_CR22","series-title":"Lecture notes in computer science","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1007\/978-3-030-62522-1_29","volume-title":"Conceptual modeling","author":"A Bernasconi","year":"2020","unstructured":"Bernasconi A, Canakoglu A, Pinoli P, Ceri S. Empowering virus sequence research through conceptual modeling. In: Dobbie G, Frank U, Kappel G, Liddle SW, Mayr HC, editors. Conceptual modeling. Lecture notes in computer science. Cham: Springer; 2020. p. 388\u2013402. https:\/\/doi.org\/10.1007\/978-3-030-62522-1_29."},{"key":"4944_CR23","series-title":"Lecture notes in business information processing","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1007\/978-3-030-79186-5_24","volume-title":"Enterprise, business-process and information systems modeling","author":"JF Reyes Rom\u00e1n","year":"2021","unstructured":"Reyes Rom\u00e1n JF, Marco Palomares A, Garc\u00eda Sim\u00f3n A, Pastor O. A model-based application for the effective and efficient management of data associated with Retina-Macula Pathology. In: Augusto A, Gill A, Nurcan S, Reinhartz-Berger I, Schmidt R, Zdravkovic J, editors. Enterprise, business-process and information systems modeling. Lecture notes in business information processing. Cham: Springer; 2021. p. 366\u201379. https:\/\/doi.org\/10.1007\/978-3-030-79186-5_24."},{"key":"4944_CR24","doi-asserted-by":"crossref","unstructured":"Garc\u00eda S. A, I\u00f1iguez-Jarr\u00edn C, Lopez O, Gonzalez-Ibea D, P\u00e9rez-Rom\u00e1n E, Borred\u00e0 C, Terol J, Ibanez V, Tal\u00f3n M. Applying user centred design to improve the design of genomic user interfaces, 2021;25\u201335. https:\/\/www.scitepress.org\/Link.aspx?doi=10.5220\/0010187800250035 Accessed 09 Nov 2021.","DOI":"10.5220\/0010187800250035"},{"key":"4944_CR25","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1346","volume-title":"The OBO foundry: coordinated evolution of ontologies to support biomedical data integration","author":"B Smith","year":"2007","unstructured":"Smith B, et al. The OBO foundry: coordinated evolution of ontologies to support biomedical data integration. Berlin: Nature Publishing Group; 2007. https:\/\/doi.org\/10.1038\/nbt1346."},{"key":"4944_CR26","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2363","volume-title":"Use and misuse of the gene ontology annotations","author":"S Yon Rhee","year":"2008","unstructured":"Yon Rhee S, Wood V, Dolinski K, Draghici S. Use and misuse of the gene ontology annotations. Berlin: Nature Publishing Group; 2008. https:\/\/doi.org\/10.1038\/nrg2363."},{"key":"4944_CR27","unstructured":"Smith B, Williams J, Schulze-Kremer S. The ontology of the gene ontology. In: AMIA ... Annual Symposium proceedings \/ AMIA Symposium. AMIA Symposium 2003;2003, 609\u2013613."},{"issue":"8","key":"4944_CR28","doi-asserted-by":"publisher","first-page":"1425","DOI":"10.1101\/gr.180801","volume":"11","author":"M Ashburner","year":"2001","unstructured":"Ashburner M, et al. Creating the gene ontology resource: design and implementation. Genome Res. 2001;11(8):1425\u201333. https:\/\/doi.org\/10.1101\/gr.180801.","journal-title":"Genome Res"},{"issue":"1\u20132","key":"4944_CR29","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1162\/dint_r_00024","volume":"2","author":"A Jacobsen","year":"2020","unstructured":"Jacobsen A, de Miranda\u00a0Azevedo R, Juty N, Batista D, Coles S, Cornet R, Courtot M, Crosas M, Dumontier M, Evelo CT, Goble C, Guizzardi G, Hansen KK, Hasnain A, Hettne K, Heringa J, Hooft RWW, Imming M, Jeffery KG, Kaliyaperumal R, Kersloot MG, Kirkpatrick CR, Kuhn T, Labastida I, Magagna B, McQuilton P, Meyers N, Montesanti A, van Reisen M, Rocca-Serra P, Pergl R, Sansone S-A, da Silva Santos LOB, Schneider J, Strawn G, Thompson M, Waagmeester A, Weigel T, Wilkinson MD, Willighagen EL, Wittenburg P, Roos M, Mons B, Schultes E. FAIR principles: interpretations and implementation considerations. Data Intell. 2020;2(1\u20132):10\u201329. https:\/\/doi.org\/10.1162\/dint_r_00024.","journal-title":"Data Intell"},{"issue":"1\u20132","key":"4944_CR30","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1162\/dint\\_a_00040","volume":"2","author":"G Guizzardi","year":"2020","unstructured":"Guizzardi G. Ontology, ontologies and the \u201cI\u2019\u2019 of FAIR. Data Intell. 2020;2(1\u20132):181\u201391. https:\/\/doi.org\/10.1162\/dint_a_00040.","journal-title":"Data Intell"},{"key":"4944_CR31","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1007\/978-3-030-65847-2_6","volume-title":"Advances in conceptual modeling","author":"A Garc\u00eda S","year":"2020","unstructured":"Garc\u00eda S A, Casamayor JC. Towards the generation of a species-independent conceptual schema of the genome. In: Grossmann G, Ram S, editors. Advances in conceptual modeling. Cham: Springer; 2020. p. 61\u201370."},{"issue":"13","key":"4944_CR32","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1186\/s12859-021-04237-x","volume":"22","author":"SA Garc\u00eda","year":"2021","unstructured":"Garc\u00eda SA, Casamayor JC. On how to generalize species-specific conceptual schemes to generate a species-independent conceptual schema of the genome. BMC Bioinform. 2021;22(13):353. https:\/\/doi.org\/10.1186\/s12859-021-04237-x.","journal-title":"BMC Bioinform"},{"key":"4944_CR33","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/978-3-030-79108-7_6","volume-title":"Intelligent information systems","author":"SA Garc\u00eda","year":"2021","unstructured":"Garc\u00eda SA, Casamayor JC, Pastor O. ISGE: a conceptual model-based method to correctly manage genome data. In: Nurcan S, Korthaus A, editors. Intelligent information systems. Cham: Springer; 2021. p. 47\u201354."},{"key":"4944_CR34","series-title":"Lecture notes in business information processing","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-79108-7_1","volume-title":"Intelligent information systems","author":"A Le\u00f3n","year":"2021","unstructured":"Le\u00f3n A, Garc\u00eda SA, Costa M, Va\u00f1\u00f3 Ribelles A, Pastor O. Evolution of an adaptive information system for precision medicine. In: Nurcan S, Korthaus A, editors. Intelligent information systems. Lecture notes in business information processing. Cham: Springer; 2021. https:\/\/doi.org\/10.1007\/978-3-030-79108-7_1."},{"key":"4944_CR35","unstructured":"Costa M. Dise\u00f1o y Desarrollo de una Plataforma para la Gesti\u00f3n de Datos Gen\u00f3micos: Or\u00e1culo Gen\u00f3mico de Delfos. Universitat Polit\u00e8cnica de Val\u00e8ncia. 2021. http:\/\/hdl.handle.net\/10251\/173220."},{"key":"4944_CR36","unstructured":"Spreeuwenberg S, Henao P. AIX: artificial intelligence needs eXplanation: why and how transparency increases the success of AI solutions, 2019."},{"key":"4944_CR37","unstructured":"I\u00f1iguez-Jarrin C. GenomIUm: a pattern based method for designing user interfaces for genomic data access. PhD Thesis, Universitat Polit\u00e8cnica de Val\u00e8ncia, 2019."},{"issue":"8","key":"4944_CR38","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1186\/s13059-014-0438-7","volume":"15","author":"BM Good","year":"2014","unstructured":"Good BM, Ainscough BJ, McMichael JF, Su AI, Griffith OL. Organizing knowledge to enable personalization of medicine in cancer. Genome Biol. 2014;15(8):438. https:\/\/doi.org\/10.1186\/s13059-014-0438-7.","journal-title":"Genome Biol"},{"key":"4944_CR39","series-title":"Lecture notes in Computer Science","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1007\/978-3-030-88358-4_9","volume-title":"Advances in conceptual modeling","author":"A Garc\u00eda Sim\u00f3n","year":"2021","unstructured":"Garc\u00eda Sim\u00f3n A, Costa S\u00e1nchez M, Pastor O. Characterization and treatment of the temporal dimension of genomic variations: a conceptual model-based approach. In: Reinhartz-Berger I, Sadiq S, editors. Advances in conceptual modeling. Lecture notes in Computer Science. Cham: Springer; 2021. p. 104\u201313. https:\/\/doi.org\/10.1007\/978-3-030-88358-4_9."},{"key":"4944_CR40","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-43839-8","volume-title":"Design science methodology for information systems and software engineering","author":"RJ Wieringa","year":"2014","unstructured":"Wieringa RJ. Design science methodology for information systems and software engineering. Cham: Springer; 2014."}],"container-title":["BMC Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-022-04944-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12859-022-04944-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-022-04944-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T20:59:49Z","timestamp":1728334789000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcbioinformatics.biomedcentral.com\/articles\/10.1186\/s12859-022-04944-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,9]]},"references-count":40,"journal-issue":{"issue":"S11","published-online":{"date-parts":[[2022,11]]}},"alternative-id":["4944"],"URL":"https:\/\/doi.org\/10.1186\/s12859-022-04944-z","relation":{},"ISSN":["1471-2105"],"issn-type":[{"type":"electronic","value":"1471-2105"}],"subject":[],"published":{"date-parts":[[2022,11,9]]},"assertion":[{"value":"14 September 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 September 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}}],"article-number":"472"}}