GenesLove.Me 2.0: Improving the Prioritization of Genetic Variations

Abstract

The objective of this research work is to present the advances obtained in the development of the prototype called “VarSearch” (now called “GenesLove.Me 2.0”), which aims to manage large amounts of genomic information for further exploitation through of genomic reports that allow enhancing the highly acclaimed “Personalized Medicine”. This software project is considered from the perspective of Information Systems Engineering (ISE) applied to the genomic domain, this with the goal of eradicating or reducing the problems and challenges present in the so-called “genomic data chaos”. GenesLove.Me 2.0 (GLM 2.0) is based on the Conceptual Model of the Human Genome (CMHG), which allows to improve the understanding and reduce the complexity of the domain. Currently, it has new phenotypes studied, which integrate within the methodology used a data quality criteria that contribute to the management of curated data. Therefore, providing a software tool based on conceptual models for the generation of genomic reports is a breakthrough that improves the working methods and techniques of all stakeholders (e.g., geneticists, researchers, clinical laboratories) in the genomic and clinical context.