Emmanuelle Salort‐Campana

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.

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.