Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative
Camille Verebi, Anthony Maino, Corinne Metay, Juliette Nectoux et autres
Abstract Background Myopathies represent a very heterogeneous group of disease with multiple underlying causes, challenging for molecular genetic diagnosis. Hence, the diagnostic yield is very variable within the different myopathy subtypes. Current diagnostic strategies mainly rely on gene-panel or exome sequencing (ES) …
fr (code pays fourni par la source)
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Genome Medicine