Principal Investigator:
Luciano Giaco’ PhD
Researchers involved:
Davide Guido PhD, Fernando Palluzzi PhD, Alessia Preziosi MD, Beatrice Tropea MD
Target:
The aim of the research is providing a valuable decisional support systems (DSS) to help the clinicians to interpret the VUS (Variant Unknown Significance) variants. An algorithm-based tool will develop to determine the VUS pattern in relation to the starting and final classifications and time duration (until variant classification). A number of relevant biological features will be also considered. Complex statistical modelling and machine learning methods will be applied to perform inferential estimation and predictive analysis.