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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

F. Leturcq

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2 papers indexed here

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Open access Sep 2026

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

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) approaches,...

Camille Verebi, A. Maino, C. Métay et al. · 0 citations
Open access Jul 2026

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing

Diagnosing rare muscle diseases can be challenging due to their genetic heterogeneity. The French National Network for Rare Neuromuscular Diseases (FILNEMUS) has previously established a pioneering nationwide strategy based on gene lists organized in 13 phenotype-specific gene panels. We now revise these lists and add...

E. Pion, M. Cossée, Valérie Biancalana et al. · 0 citations

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