1. Mardis, E.R.: The $1,000 genome, the $100,000 analysis? Genome Med.2(11), 84 (2010)

   Article  Google Scholar 

2. Grosso, L.A.: Precision medicine and cardiovascular diseases. Rev. Colomb. Cardiol.23(2), 73–76 (2016).https://doi.org/10.1016/j.rccar.2016.01.026

   Article  Google Scholar 

3. Olivé, A.: Conceptual Modeling of Information Systems. Springer, Heidelberg (2007).https://doi.org/10.1007/978-3-540-39390-0

   Book MATH  Google Scholar 

4. Reyes Román, J.F., Pastor, Ó., Casamayor, J.C., Valverde, F.: Applying conceptual modeling to better understand the human genome. In: Comyn-Wattiau, I., Tanaka, K., Song, I.Y., Yamamoto, S., Saeki, M. (eds.) ER 2016. LNCS, vol. 9974, pp. 404–412. Springer, Cham (2016).https://doi.org/10.1007/978-3-319-46397-1_31

   Chapter  Google Scholar 

5. Pastor López, Ó., Palacio, A.L., Reyes Román, J.F., Casamayor, J.C.: Modeling life: a conceptual schema-centric approach to understand the genome. In: Cabot, J., Gómez, C., Pastor, O., Sancho, M., Teniente, E. (eds.) Conceptual Modeling Perspectives, pp. 25–40. Springer, Cham (2017).https://doi.org/10.1007/978-3-319-67271-7_3

   Chapter  Google Scholar 

6. Reyes Román, J.F.: Diseño y Desarrollo de un Sistema de Información Genómica basado en un Modelo Conceptual holístico del Genoma Humano. Universitat Politècnica de València (2018).https://doi.org/10.4995/thesis/10251/99565

7. Reyes Román, J.F., Roldán Martínez, D., García Simón, A., Rueda, U., Pastor, Ó.: VarSearch: annotating variations using an e-genomics framework. In: Proceedings of the 13th International Conference on Evaluation of Novel Approaches to Software Engineering - Volume 1: ENASE, pp. 328–334 (2018).https://doi.org/10.5220/0006781103280334. ISBN 978-989-758-300-1

8. Reyes Román, J.F., Iñiguez-Jarrín, C., Pastor López, Ó.: GenesLove.Me: a model-based web-application for direct-to-consumer genetic tests. In: Proceedings of the 12th International Conference on Evaluation of Novel Approaches to Software Engineering - Volume 1: ENASE, pp. 133–143 (2017).https://doi.org/10.5220/0006340201330143. ISBN 978-989-758-250-9

9. Reyes Román, J.F., Iñiguez-Jarrín, C., Pastor, Ó.: Genomic tools*: web-applications based on conceptual models for the genomic diagnosis. In: Damiani, E., Spanoudakis, G., Maciaszek, L. (eds.) ENASE 2017. CCIS, vol. 866, pp. 48–69. Springer, Cham (2018).https://doi.org/10.1007/978-3-319-94135-6_3

   Chapter  Google Scholar 

10. Stephens, Z.D., et al.: Big data: astronomical or genomical? PLOS Biol.13(7), e1002195 (2015).https://doi.org/10.1371/journal.pbio.1002195

    Article  Google Scholar 

11. León Palacio, A., Pastor López, Ó.: From big data to smart data: a genomic information systems perspective. In: 2018 12th International Conference on Research Challenges in Information Science (RCIS), pp. 1–11 (2018).https://doi.org/10.1109/rcis.2018.8406658

12. Navarrete-Hidalgo, M., Reyes Román, J.F., Pastor López, Ó.: Design and implementation of a GeIS for the genomic diagnosis using the SILE methodology. Case Study: Congenital Cataract. In Proceedings of the 13th International Conference on Evaluation of Novel Approaches to Software Engineering – Vol. 1: ENASE, pp. 267–274 (2018).https://doi.org/10.5220/0006705802670274. ISBN 978-989-758-300-1

13. Bornberg-Bauer, E., Paton, N.W.: Conceptual data modelling for bioinformatics. Briefings Bioinform.3(2), 166–180 (2002).https://doi.org/10.1093/bib/3.2.166

    Article  Google Scholar 

14. Gray, R.E., Grasso, D.G., Maxwell, R.J., Finnegan, P.M., Nagley, P., Devenish, R.J.: Identification of a 66 KDa protein associated with yeast mitochondrial ATP synthase as heat shock protein hsp60. FEBS Lett.268(1), 265–268 (1990)

    Article  Google Scholar 

15. Ram, S., Wei, W.: Modeling the semantics of 3D protein structures. In: Atzeni, P., Chu, W., Lu, H., Zhou, S., Ling, T.-W. (eds.) ER 2004. LNCS, vol. 3288, pp. 696–708. Springer, Heidelberg (2004).https://doi.org/10.1007/978-3-540-30464-7_52

    Chapter  Google Scholar 

16. Pastor, O.: Conceptual modeling meets the human genome. In: Li, Q., Spaccapietra, S., Yu, E., Olivé, A. (eds.) ER 2008. LNCS, vol. 5231, pp. 1–11. Springer, Heidelberg (2008).https://doi.org/10.1007/978-3-540-87877-3_1

    Chapter  Google Scholar 

17. Pastor, M.Á., Burriel, V., Pastor, O.: Conceptual modeling of human genome mutations - a dichotomy between what we have and what we should have. In: Bioinformatics, pp. 160–166 (2010)

    Google Scholar 

18. Reyes Román, J.F., León Palacio, A., Pastor López, Ó.: Software engineering and genomics: the two sides of the same coin? In: Proceedings of the 12th International Conference on Evaluation of Novel Approaches to Software Engineering - Volume 1: ENASE, pp. 301–307 (2017).https://doi.org/10.5220/0006368203010307. ISBN 978-989-758-250-9

19. Pastor, O., Reyes Román, J.F., Valverde, F.: Conceptual Schema of the Human Genome (CSHG). Technical report (2016).http://hdl.handle.net/10251/67297

20. León, A., Reyes, J., Burriel, V., Valverde, F.: Data quality problems when integrating genomic information. In: Link, S., Trujillo, J. (eds.) ER 2016. LNCS, vol. 9975, pp. 173–182. Springer, Cham (2016).https://doi.org/10.1007/978-3-319-47717-6_15

    Chapter  Google Scholar 

21. León Palacio, A., Pastor López, Ó.: Towards an effective medicine of precision by using conceptual modelling of the genome: short paper. In: Proceedings of the International Workshop on Software Engineering in Healthcare Systems, pp. 14–17. ACM (2018)

    Google Scholar 

22. Rouse, M.: A data lake is a large object-based storage repository that holds data in its native format until it is needed (2014)

    Google Scholar 

23. Breul, J.D.: Cyber Society, Big Data, and Evaluation: Comparative Policy Evaluation. Transaction Publishers, Piscataway (2017)

    Google Scholar 

24. Rigden, D.J., Fernández, X.M.: The 2018 nucleic acids research database issue and the online molecular biology database collection. Nucleic Acids Res.46(D1), D1–D7 (2017)

    Article  Google Scholar 

25. Alexov, E.: Navigating through genomics data to deliver testable predictions. Hum. Mutat.36(2), v (2015)

    Article  Google Scholar 

26. Landrum, M.J.: ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res.44(D1), D862–D868 (2015)

    Article  Google Scholar 

27. Nasko, D.J., Koren, S., Phillippy, A.M., Treangen, T.J.: RefSeq database growth influences the accuracy of k-mer-based species identification. bioRxiv, p. 304972 (2018)

    Google Scholar 

28. NCBI Resource Coordinators: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res.44(Database issue), D7 (2016)

    Google Scholar 

29. NCBI Resource Coordinators: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res.45(Database issue), D12 (2017)

    Google Scholar 

30. Zerbino, D.R., et al.: Ensembl 2018. Nucleic Acids Res.46(D1), D754–D761 (2017)

    Article  Google Scholar 

31. Bhagwat, M.: Searching NCBI’s dbSNP database. Current Protoc. Bioinform.32(1), 1–19 (2010)

    Google Scholar 

32. Kinoshita, J., Clark, T.: Alzforum. Neuroinformatics, pp. 365–381. Humana Press, New York (2007)

    Google Scholar 

33. Reyes Román, J.F., Pastor López, Ó.: Use of GeIS for early diagnosis of alcohol sensitivity. In Proceedings of the 9th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 3: Bioinformatics (BIOSTEC 2016), pp. 284–289 (2016).https://doi.org/10.5220/0005822902840289. ISBN 978-989-758-170-0

34. Zhou, H., Yang, D., Xu, Y.: An ETL strategy for real-time data warehouse. In: Wang, Y., Li, T. (eds.) Practical Applications of Intelligent Systems Advances in Intelligent and Soft Computing, vol. 124. Springer, Heidelberg (2011).https://doi.org/10.1007/978-3-642-25658-5_41

    Chapter  Google Scholar 

35. Van Der Kroon, M.: Conceptual Modeling Applied to Genomics: Challenges Faced in Data Loading. Universitat Politècnica de València (2012).http://hdl.handle.net/10251/16993

36. Navarrete Hidalgo, M., Pastor, Ó., Reyes Román, J.F.: Diseño e Implementación de un Sistema de Información Genómico para el Diagnóstico de la Catarata Congénita utilizando la Metodología SILE. Universitat Politècnica de València (2017).http://hdl.handle.net/10251/90234

37. Claverie, J.M., Notredame, C.: Bioinformatics for Dummies. Wiley, New York (2011)

    Google Scholar 

38. Miller, J.J.: Graph database applications and concepts with Neo4j. In: Proceedings of the Southern Association for Information Systems Conference, Atlanta, GA, USA, vol. 2324, p. 36 (2013)

    Google Scholar 

39. Burriel, V., Reyes Román, J.F., Casanoves, A.H., Iñiguez-Jarrín, C., León Palacio, A.: GeIS based on conceptual models for the risk assessment of neuroblastoma. In: 2017 11th International Conference on Research Challenges in Information Science (RCIS), pp. 451–452. IEEE (2017).https://doi.org/10.1109/rcis.2017.7956581

Download references