Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders
Louise Benarroch, Pierre‐Yves Boëlle, Hélène Madry, Badreddine Mohand Oumoussa, Nobuyuki Eura, Ichizo Nishino, Karim Labrèche, Valeriia Gorbunova, Guillaume Bassez, Tanya Stojkovic, Geneviève Gourdon, Gisèle Bonne, Stéphanie Tomé
This study compares CRISPR/Cas9-targeted nanopore sequencing approaches for characterizing repeat expansions in DM1 and OPDM, showing the impact of basecalling strategies and identifying somatic mosaicism and hypermethylation.
Genomics Proteomics & Bioinformatics · Oct 22, 2025Peer-reviewedBioinformatics