Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2
Marco Carlomagno, Francisco Javier Suarez Lopez, Simone Maestri, Alfonso Esposito, Vanja Obadovic, Virginia Veronica Visconti, Dario Ciabini, Luca Marcolungo, Niccolo Rossi, Mauro Casagrande, Luca Angheben, Lorenzo Spadoni, Maria Rosaria D’Apice, Giuseppe Novelli, Massimo Delledonne, , Marzia Rossato
The paper validates long-read sequencing methods for analyzing repeat expansions in DM2, identifying new repeat motifs and improving bioinformatic workflows.
bioRxiv · Jun 10, 2026 · PreprintGenomics