Development of artificial intelligence methods for clinical genetics

Zusammenfassung

The present research work focuses on the identification of points of improvement of the current genetic analysis and cell counting systems for laboratory use in the clinical sector. It analyzes the different existing methodologies through expert surveys, literature research and comparative experiments. It then proposes several improved methodologies for cell counting based on artificial intelligence and for automation of genetic analysis in massive NGS sequencing systems for clinical genomics. The work also proposes several optimizations for the process of genetic variants interpretation based on a combination of the methodology proposed by the ACMG and Artificial Intelligence, with applications in both clinical and preventive medicine.