One of the main challenges of genetic diagnosis is the identification and management of high-quality genomic information. The development of Information Systems to handle multitude of heterogeneous datasets that come from many different sources and with different structure in such complex domain, requires new methodological and technological approaches.
In this context, the PROS Research Center has developed SILE, a method based on conceptual models and Explainable Artificial Intelligence, that states the bases to select (S) the most adequate genomic repositories, identify (I) de relevant information according to the analytical requirements, provide the most adequate data storage to load (L) the data, and provide tools to exploit (E) the data and generate new knowledge.
The Delphos Platform provides technological support to the SILE method by automating its different stages and is divided into four modules:
Hermes: This module oversees the main tasks related with the extraction, cleaning, transformation, and integration of the data coming from the genomic repositories. Using data science techniques and supported by a conceptual schema specially developed for the genomic domain, Hermes allows researchers to get a unified and integrated view of the extracted data, ensuring their quality and interoperability.
Ulises: The core of the identification stage is an Explainable Artificial Intelligence algorithm, that process the data coming from Hermes and determines if the variants are relevant to be used for the genetic diagnosis is the context of the different diseases under study. Ulises allows the researcher to understand why the decisions have been made, increasing its trustworthiness and the quality of the results.
Delphos database: The Delphos platform is supported by a database that allows the storage and persistence of the data, following the structure described by the underlying conceptual schema and considering the analytical requirements of the researchers.
Sibila: The extraction of knowledge requires a set of tools specifically designed for the genomic domain, that allow the visualization, interaction, and exploration of the stored data. Sibila provides the researcher with an interface to explore the data, based on well-identified patterns especially useful in complex domains, that increases the value of the data and their applicability in the clinical practice.
The Delphos Platform is a step forward in the development of Genomic Information Systems intended to support the genetic diagnosis in the context of Precision Medicine.