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project info
Start date: 25 September 2019
End date: 30 June 2023
funding
Fund: European Regional Development Fund (ERDF)
Total budget: 2 500 000,00 €
EU contribution: 1 361 250,00 € (54,45%)
programme
Programming period: 2014-2021
Managing authority: Subdirección General de Gestión del FEDER, de la Dirección General de Fondos Europeos del Ministerio de Hacienda.
beneficiary

Platform and expert system of genomic studies

The objective of this project is the design, construction and commissioning of a single, integrated device (tool / machine) and expert system, which combines in a single platform the entire process of genomic studies of an individual (DNA/RNA extraction, nucleic acid sequence analysis, file generation, analysis and interpretation of results, and real-time information to the individual). It is a 3-block device that allows in a simple and automated way: 1-Obtaining nucleic acids from any type of biological tissue. 2-Massive sequencing of genomes, exomes or gene panels automatically in a centralized device, currently non-existent; 3-Automated and direct analysis of the genomic data obtained from an individual by an expert system, its permanent updating and the generation of a report at the time of the study and its continuous updating in real time through the connection of smart devices. It is about the generation of a product built under SaaS (software as a service) premises that allows obtaining clinical reports from raw genomic data. The System will have state-of-the-art analysis modules, data exploitation and Business intelligence. The innovation that the project brings is maximum. There is no machine or platform on the market that can bundle and unify DNA/RNA extraction and library preparation and production, sample run, and final reading for NGS. Block 1 will allow a single RNA/DNA extraction device to prepare these for the next step of massive sequencing. THERE IS NO SUCH SOLUTION IN THE CURRENT MARKET. Block 2 will allow the combination of the entire sequencing process on a single platform, improving the efficiency and effectiveness of the diagnosis and reducing the time and handling of samples. In block 3, the innovation is that a platform can analyze, compile and save information on genomic information of healthy individuals / patients, with the unprecedented possibility of staying updated in the database as knowledge and information emerge in the medical literature. The target population for which it is intended is patients in need of a genomic study and diagnosis, and potentially any individual of any age oriented to precision medicine. The implementation of this project will allow the integration of the genomic information of the patients in a centralized expert system within the SNS; facilitate the standardization of genomic information, allow interaction, update and decision-making between patients / individuals and health professionals, optimize health information systems (HCEs, and patient management systems) improving the efficiency of the big health data and coding languages.

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