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Modeling Life: A Conceptual Schema-centric Approach to Understand the Genome

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Abstract

Programs are historically the basic notion in Software Engineering, which represents the final artifact to be executed in a machine. These programs have been created by humans, using a silicon-based code, whose final components use a binary code represented by 0s and 1s. If we look at life as a program with a DNA-based genetic code with a final representation that uses four essential units (A, C, G and T), one challenging question emerges.Can we establish a correspondence between life – from a genomic perspective – and programs – from a Software Engineering perspective? This paper assumes a positive answer to this question and shows how genomic can benefit from Information Systems Engineering by applying conceptual modeling to determine those relevant data that life represents in order to manage them accordingly, with special emphasis in the health domain. The main contributions focus on i) a concrete materialization of a Conceptual Schema of the Human Genome, ii) the need of having a method to provide a methodological guidance concerning genome data management, and iii) the importance of assessing data quality for all generated data that are going to be used in critical domains such as health and Precision Medicine.

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Acknowledgements

The authors are grateful to the members of the PROS Center Genome group for fruitful discussions. This work has been supported by the Ministry of Higher Education, Science and Technology (MESCyT) of the Dominican Republic and also has the support of Generalitat Valenciana through project IDEO (PROMETEOII/2014/039), the Research and Development Aid Program (PAID-01-16) of the UPV under FPI Grant 2137. and Spanish Ministry of Science and Innovation through project DataME (ref: TIN2016-80811-P).

Author information

Authors and Affiliations

  1. PROS Research Center, Universitat Politècnica de València, València, Spain

    Óscar Pastor López, Ana León Palacio & José Fabián Reyes Román

  2. Dept. of Engineering Sciences, Universidad Central del Este (UCE), San Pedro de Macoris, Dominican Republic

    José Fabián Reyes Román

  3. Departamento de Sistemas Informáticos y Computación (DSIC), Universitat Politècnica de València, València, Spain

    Juan Carlos Casamayor

Authors
  1. Óscar Pastor López

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  2. Ana León Palacio

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  3. José Fabián Reyes Román

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  4. Juan Carlos Casamayor

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Corresponding author

Correspondence toÓscar Pastor López.

Editor information

Editors and Affiliations

  1. ICREA, Universitat Oberta de Catalunya, Barcelona, Spain

    Jordi Cabot

  2. Department of Service and Information System Engineering, Universitat Politècnica de Catalunya, Barcelona, Spain

    Cristina Gómez

  3. PROS Research Center, Universitat Politècnica de València, Valencia, Spain

    Oscar Pastor

  4. Education and Training Department, Barcelona Supercomputing Center, Barcelona, Spain

    Maria Ribera Sancho

  5. Department of Service and Information System Engineering, Universitat Politècnica de Catalunya, Barcelona, Spain

    Ernest Teniente

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López, Ó.P., Palacio, A.L., Román, J.F.R., Casamayor, J.C. (2017). 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. Springer, Cham. https://doi.org/10.1007/978-3-319-67271-7_3

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