A. Urbani

STRmie-HD is a tool for high-resolution genotyping of HTT repeat expansions and somatic mosaicism across sequencing platforms, capturing interruptions and rare variants with high sensitivity.

This study uses UPLC-MS to analyze amino acid profiles in post-mortem brain tissue from PD and AD patients, revealing region-specific metabolic changes.

nAPOGEE assesses pathogenicity of mitochondrial noncoding variants using machine learning, revealing consistent spatial correlation of predicted pathogenicity.