Maria Giulia Carta

OncoVI is a Python-based tool that automates oncogenicity classification of somatic variants using guidelines, achieving 80% accuracy on test data and 79% agreement with expert assessments.

This paper develops a fully-automated workflow to streamline NGS-based analyses in Molecular Tumour Boards by integrating variant interpretation and biomarker estimation.

The paper evaluates variant prioritization methods for rare disease diagnosis using data from the Rare Genomes Project, finding that top models identify causal variants in most solved families and uncover potential candidates in unsolved ones.