Comparison of long-read sequencing strategies for resolving complex genotypes at Facioscapulohumeral dystrophy-associated loci
Charlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski, Loeva Morin, Christel Castro, Louis Souville, Camille Humbert, Laurène Gérard, Nathalie Eudes, Amire Assoumani, Karine Bertaux, Camille Verebi, Juliette Nectoux, Emmanuelle Salort‐Campana, Marie‐Line Jacquemont, , Frédérique Magdinier
This paper compares long-read sequencing strategies to resolve complex genotypes at FSHD-associated loci, showing that structural variants arise from intrachromosomal recombination and require high-resolution methods for accurate detection.
medRxiv · Aug 8, 2025 · PreprintGenetic & Genomic Medicine