GenomicsbioRxivPreprint
Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2
Marco Carlomagno, Francisco Javier Suarez Lopez, Simone Maestri…·Marzia Rossato
The paper validates long-read sequencing methods for analyzing repeat expansions in DM2, identifying new repeat motifs and improving bioinformatic workflows.
DOI 10.64898/2026.06.06.730578