STRmie-HD enables interruption-aware HTT repeat genotyping and somatic mosaicism profiling across sequencing platforms
Alessandro Napoli, Niccolò Liorni, Tommaso Biagini, Agnese Giovannetti, Alessia Squitieri, Luca Miele, A. Urbani, Viviana Caputo, Antonio Gasbarrini, Ferdinando Squitieri, Tommaso Mazza
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.
bioRxiv · Mar 25, 2026 · PreprintBioinformatics