Francesco Musacchia

GeNePi is a GPU-enhanced bioinformatics pipeline for WGS analysis that efficiently identifies genomic variants with performance comparable to state-of-the-art tools.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

The paper identifies LINE retrotransposons and long non-coding RNAs in octopus brains, suggesting their role in cognitive evolution through germline and somatic activity.

VarGenius-HZD detects rare homozygous and hemizygous deletions in targeted sequencing with higher sensitivity than existing tools.

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