Niccolò Liorni

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.

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

APOGEE 2 improves pathogenicity prediction for mitochondrial missense variants using a machine learning model based on ACMG/AMP guidelines and provides region-wise genome fragility assessments.

This study uses network analysis in Drosophila melanogaster to identify mitochondrial genes associated with aging and age-related diseases.

The paper performs an integrative CUT&Tag/RNA-Seq analysis to investigate how macroH2A1 histone variants influence iPSC reprogramming efficiency in human cells.