Open access
Sep 2026
Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative
Genome Sequencing showed GS as a valuable and feasible approach allowing the elucidation of complex variants and the discovery of new pathogenic mechanisms in the context of myopathy, as part of a large national scale GS strategy piloted by the French Genomic Medicine Initiative.
Camille Verebi, A. Maino, C. Métay et al.
· Genome Medicine · 0 citations