Delfos Platform

Information system for the management of relevant genomic variations

Abstract

  1. Context information: What is the problem/need that customers have and that this knowledge solves? What is it for?
    Thanks to next-generation sequencing techniques, the available knowledge about the genome is growing massively. This knowledge is typically stored in different databases and repositories, being accessible to those professionals/researchers who want to give it a potential clinical or research use.
    However, this information is difficult to use in the clinical setting due to its large volume, heterogeneity, complexity and quality problems (incomplete information, lack of evidence, etc.). In the current state, this information could facilitate the diagnosis and treatment of diseases with a genetic component, but this objective is not immediately achievable due to the absence of adequate tools to manage it in a reliable and efficient way. The Delfos platform seeks to provide a comprehensive solution to the problems mentioned above, providing an advanced genomic data management system with potential applications in clinical practice.
  2. Existing solutions: how is this problem/need usually solved? what is proposed by the UPV? why is it better? IF it is possible to quantify the improvement
    At present there are solutions that partially address the problems raised. Tools such as Alamut, MasterMind or VarSeq, provide solutions to very specific problems such as the review of associated literature, definition of workflows for the annotation of variations, or tools to support interpretation. However, there is still a lack of solutions that allow an analysis of genomic information from a global point of view, making it possible to establish clear and clinically useful connections between the genotype (the variations in a patient’s DNA) and the phenotype (the clinical manifestations presented). The PROS center proposes a genomic information management platform which, based on a conceptual model of the domain (the Human Genome Conceptual Schema), allows the integration of information from different data sources so that these genotype-phenotype associations are much easier to identify for clinical experts and researchers. The Delfos platform also has a methodological support that ensures the quality of the information handled during the entire management process, from the selection of data sources to the processing, storage and exploitation of the information. This increases the value of the results obtained and contributes to making precision medicine an applied reality.
  3. Some technical characteristics of the software: execution environment (on line, Windows, …) requirements, etc.
    The Hermes and Ulysses modules can be run in any Windows, Linux or Mac OS environment with a local R installation and the required additional libraries. The Delphi and Sibyl modules can be run in any browser (Chrome, Mozilla, Explorer…) from the Windows, Linux or Mac OS operating system. It is not recommended to use them from mobile devices due to screen size restrictions.

Technical specifications

Type of technology

SOFTWARE

Inventors