Tommaso Pippucci

This study demonstrates that long-read sequencing using Oxford Nanopore Technologies can rapidly and accurately detect pathogenic unbalanced structural variants with resolution comparable to traditional methods.

unCOVERApp provides tools to assess and annotate low-coverage regions in NGS data to improve diagnostic accuracy by identifying clinically relevant variants.

The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.

This study shows that Spartin loss in Troyer syndrome causes Complex I impairments and metabolic changes, including altered pyruvate metabolism and increased glycolysis.