Niccolo Rossi

Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2

The paper validates long-read sequencing methods for analyzing repeat expansions in DM2, identifying new repeat motifs and improving bioinformatic workflows.

On-site microbial community analysis in rivers: integrating autonomous sampling with a portable sequencing workflow

The paper develops a portable sequencing workflow for in situ microbial community analysis in rivers, combining autonomous sampling with field and lab sequencing to reduce costs and improve temporal resolution.

The genetics and epidemiology of N- and O- IgA glycomics

This study presents the first large-scale IgA glycomics dataset from twins, identifies shared and specific genetic loci influencing IgA and IgG glycosylation, and shows genetic conservation across ethnicities.

Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable

The paper identifies X-linked genes that escape X-inactivation in twins across tissues, showing variability between individuals and suggesting genetic and environmental influences.