VarSearch: Annotating Variations using an e-Genomics Framework

José Fabián Reyes Román, David Roldán Martínez, Alberto García Simón, Urko Rueda, Óscar Pastor

2018

Abstract

Nowadays experts in the genomics field work with bioinformatics tools (software) to generate genomic diagnoses, but the reality 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 “VarSearch”, a web-based tool for genomic diagnosis that incorporates the Conceptual Model of the Human Genome (CMHG) and takes advantage of Next-Generation Sequencing (NGS) for ensuring genomic diagnostics that help to maximize the Precision Medicine (PM).

Paper Citation

in Harvard Style

Reyes Román J., Roldán Martínez D., García Simón A., Rueda U. and Pastor Ó. (2018). 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, ISBN 978-989-758-300-1, pages 328-334. DOI: 10.5220/0006781103280334

in Bibtex Style

@conference{enase18,
author={José Fabián Reyes Román and David Roldán Martínez and Alberto García Simón and Urko Rueda and Óscar Pastor},
title={VarSearch: Annotating Variations using an e-Genomics Framework},
booktitle={Proceedings of the 13th International Conference on Evaluation of Novel Approaches to Software Engineering - Volume 1: ENASE,},
year={2018},
pages={328-334},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0006781103280334},
isbn={978-989-758-300-1},
}

in EndNote Style

TY - CONF

JO - Proceedings of the 13th International Conference on Evaluation of Novel Approaches to Software Engineering - Volume 1: ENASE,
TI - VarSearch: Annotating Variations using an e-Genomics Framework
SN - 978-989-758-300-1
AU - Reyes Román J.
AU - Roldán Martínez D.
AU - García Simón A.
AU - Rueda U.
AU - Pastor Ó.
PY - 2018
SP - 328
EP - 334
DO - 10.5220/0006781103280334