In the era of massive genomic sequencing, the amount of genetic data available has increased rapidly, opening the door to a new era of possibilities in personalised medicine. In this context, the GEN-IA project has emerged, developed by the BISITE Research Group of the University of Salamanca and led by Fernando de la Prieta Pintado, under the University-Business Knowledge Transfer Plan TCUE (PC_TCUE21-23_009), with the aim of designing and validating a pipeline or set of steps of genomic analysis optimised by Artificial Intelligence (AI) techniques.

Fernando de la Prieta Pintado, principal investigator of GEN-IA project

GEN-IA aims to create personalised therapies and improve patient disease prevention and diagnosis. The project addresses not only the need for genomic analysis, but also the annotation and interpretation of genetic variants, incorporating AI algorithms and techniques.

The project has developed a tool that integrates all the phases of the genomic analysis process. This integrated approach facilitates the work of biologists and biotechnologists by providing specific tools for each phase, from data quality to the detection of genetic variants.

Integration of Artificial Intelligence

In a crucial phase of the project, AI techniques are incorporated to improve diagnosis, prevention and the development of personalised treatments. The integration of advanced algorithms and other AI techniques in genetic analysis allows for a more accurate interpretation of genomic abnormalities.

The main objective of GEN-IA is to bring AI closer to clinicians. The platform provides healthcare professionals with an intuitive frontend, allowing them to directly upload raw genetic analysis data. The GEN-IA servers automatically perform all pre-processing, analysis and AI interpretation. The end result is a simplified and meaningful presentation of patient status.

Ángel Canal, researcher in the GEN-IA project

The vision of the project is not only to improve diagnostic accuracy, but also to reduce the burden of care for clinical staff. GEN-IA aims to provide physicians and healthcare professionals with an efficient tool that simplifies the genomic analysis process, allowing them to focus on critical decision-making.

This project represents a significant step towards a future where personalised medicine is accessible and effective thanks to the synergy between genomics and artificial intelligence.

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