Targeted next-generation sequencing beneficial in muscular dystrophies, say researchers

New data suggest that targeted next-generation sequencing (NGS) is a cost-effective method that reduces the requirements for whole-exome sequencing (WES) by over 50%, and provides a significant diagnostic rate in patients with muscular dystrophy.

Many myopathies or metabolic diseases can simulate the muscle weakness observed in muscular dystrophy. WES has been the usual method of choice for the molecular diagnosis of patients presenting with a muscular dystrophy-myopathy phenotype.