Giovanni Birolo

The paper quantifies reverse-complement symmetry in codon usage across taxa and shows it is not fully explained by compositional constraints.

MUSE-XAE extracts mutational signatures from cancer genomes using an explainable Auto-Encoder, achieving accurate extraction and improving tumour-type classification.

Recombulator-X estimates X chromosome recombination rates from pedigree data, reducing computation time from weeks to under an hour and supporting larger marker panels.

BamToCov provides efficient tools for calculating sequence coverage from BAM/CRAM files, with memory optimization and support for strand-specific analysis.

The paper describes a biobanking initiative collecting genetic and clinical data from over 1,000 SARS-CoV-2-positive individuals to study multi-organ involvement and genetic factors in COVID-19 severity.

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

The paper analyzes the genetic structure of modern-day Italians to reveal ancient and archaic ancestries shaping Southern European populations and Neanderthal DNA distribution.