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Genomic Tools*: Web-Applications Based on Conceptual Models for the Genomic Diagnosis

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Evaluation of Novel Approaches to Software Engineering (ENASE 2017)

Part of the book series: Communications in Computer and Information Science ((CCIS,volume 866))

Abstract

Although experts in the genomics field now work with bioinformatics tools (software) to generate genomic diagnoses, the fact is that these solutions do not fully meet their needs. From the perspective of Information Systems (IS), the real problems lie in the lack of an approach (i.e., Software Engineering techniques) that can generate correct structures for data management. Due to the problems of dispersion, heterogeneity and the inconsistency of the data, understanding the genomic domain is a huge challenge. To demonstrate the advantages of Conceptual Modeling (CM) in complex domains -such as genomics- we propose two web-based tools for genomic diagnosis that incorporates: (i) a Conceptual Model for the direct-to-consumer genetic tests (DCGT), and (ii) our Conceptual Model of the Human Genome (CMHG), both with the aim of taking advantage of Next-Generation Sequencing (NGS) for ensuring genomic diagnostics that help to maximize the Precision Medicine (PM).

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Notes

  1. 1.

    This type of analysis is available through direct sales systems in pharmacies or other health care bodies, but the Internet has become the main selling channel for direct-to-consumer genetic analyses [7].

  2. 2.

    www.tellmegen.com/.

  3. 3.

    https://www.imegen.es/.

  4. 4.

    https://software.broadinstitute.org/gatk/.

  5. 5.

    https://usegalaxy.org/.

  6. 6.

    http://geneslove.me/index.php.

  7. 7.

    http://www.pros.webs.upv.es/.

  8. 8.

    http://www.hgvs.org/mutnomen/.

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Acknowledgements

This work was supported by the MESCyT of the Dominican Republic and also by the Generalitat Valenciana through project IDEO (PROMETEOII/2014/039), the Spanish Ministry of Science and Innovation through Project DataME (ref: TIN2016-80811-P).

The authors are grateful to Jorge Guerola M., David Roldán Martínez, Alberto García S., Ana León Palacio, Francisco Valverde Girome, Ainoha Martín, Verónica Burriel Coll, Mercedes Fernández A., Carlos Iñiguez-Jarrín, Lenin Javier Serrano and Ma. José Villanueva for their valuable assistance.

Author information

Authors and Affiliations

  1. PROS Research Center, Universitat Politècnica de València, Camino Vera s/n. 46022, Valencia, Spain

    José F. Reyes Román, Carlos Iñiguez-Jarrín & Óscar Pastor

  2. Department of Engineering Sciences, Universidad Central del Este (UCE), Ave. Francisco Alberto Caamaño Deñó, 21000, San Pedro de Macorís, Dominican Republic

    José F. Reyes Román

  3. Departamento de Informática y Ciencias de la Computación, Escuela Politécnica Nacional, Ladrón de Guevara E11-253, Quito, Ecuador

    Carlos Iñiguez-Jarrín

Authors
  1. José F. Reyes Román
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  2. Carlos Iñiguez-Jarrín
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  3. Óscar Pastor
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Corresponding author

Correspondence to José F. Reyes Román .

Editor information

Editors and Affiliations

  1. Khalifa University, Abu Dhabi, United Arab Emirates

    Ernesto Damiani

  2. City University London, London, United Kingdom

    George Spanoudakis

  3. Macquarie University, Sydney, Wroclaw University of Economics, Wroclaw, Poland

    Leszek Maciaszek

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Reyes Román, J.F., Iñiguez-Jarrín, C., Pastor, Ó. (2018). Genomic Tools*: Web-Applications Based on Conceptual Models for the Genomic Diagnosis. In: Damiani, E., Spanoudakis, G., Maciaszek, L. (eds) Evaluation of Novel Approaches to Software Engineering. ENASE 2017. Communications in Computer and Information Science, vol 866. Springer, Cham. https://doi.org/10.1007/978-3-319-94135-6_3

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  • DOI: https://doi.org/10.1007/978-3-319-94135-6_3

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