Mattia Bosio

This paper uses multilayer network analysis to identify molecular determinants of severity in Congenital Myasthenic Syndromes by integrating protein-protein interactions, pathways, and metabolomics data.

The paper introduces BATI, a Bayesian rare variant association test that outperforms existing methods in detecting rare variants associated with complex diseases, especially when genetic variation explains little phenotypic variance.

The paper uses Nanopore sequencing to track antibiotic resistance plasmid evolution and transfer between bacterial species in a hospital setting, identifying plasmid fusion and gene rearrangements.

SmartRNASeqCaller improves germline variant calling from RNA-Seq by reducing false positives by 50% while maintaining sensitivity, using machine learning trained on diverse datasets.