This was a collaboration between industry, academia and patient organizations where we applied whole exome sequencing (WES) to one of the largest cohorts of patients with unexplained limb‐girdle weakness (n=2150). The main aim of the project was to contribute to the diagnostic pathway of these patients. WES also provided scope both new gene discovery and for additional research into disease modifiers and genotype‐phenotype correlations, as shown by the large number of publications resulting from this project (XXX).

Funding: Sanofi Genzyme, Ultragenyx, LGMD2I Research Fund, Samantha J. Brazzo Foundation, LGMD2D Foundation and Kurt+Peter Foundation, Muscular Dystrophy UK, and Coalition to Cure Calpain 3.