Ottavia Spiga

The paper investigates Gly mutations in Mendelian disorders using ClinVar data, finding that bulky hydrophobic amino acid substitutions reduce protein stability and that Gly mutations may create binding pockets targetable for drug development.

HGDiscovery provides functional and phenotypic information on novel HGD missense mutations using machine learning and structural analysis.

The paper shows that the L412F polymorphism in TLR3 is associated with severe COVID-19 in males by inhibiting autophagy and reducing TNF production.

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