The diseases that pose a challenge to today’s medicine have, to a large extent, a genetic origin or component. Therein the importance of early detection of genetic factors that may trigger the development of a disease.

Next Generation Sequencing (NGS) enables clinicians to explore their patients’ genomes and search for mutations and alterations.

To analyse these data and facilitate the diagnosis process, BISITE is developing a software that processes the patients’ genome data, detects variants and mutations and predicts the possibility of those changes evolving into pathologies. This software is technologically superior to the tools and products currently available in the market. It applies Machine Learning techniques and algorithms to improve predictive capacity and to detect subtle changes in the genome.

Another objective of the proposed system is to perform tumour biopsies, and detect the sensitivity of these tumours to specific drugs.

This research work constitutes a major advance in the field of biotechnology and bioinformatics and highlights BISITE’s involvement in biomedical research.