Key result
Next-generation sequencing strategies yield a higher overall diagnostic rate for patients with skeletal muscle disorders compared to traditional gene-by-gene approaches.
Why the study?
Does next-generation sequencing improve the diagnostic rate in patients with skeletal muscle disorders compared to traditional gene-by-gene approaches?
Does next-generation sequencing improve the diagnostic rate in patients with skeletal muscle disorders compared to traditional gene-by-gene approaches?
Next-generation sequencing provides a higher diagnostic yield than traditional gene-by-gene approaches for skeletal muscle disorders and is positioned to become a first-tier test.
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NGS boosts diagnostic yield in myopathies; leaves open optimal implementation and validation in routine care.
Nigro et al. (2016) conducted a review in Skeletal muscle disorders. Next-generation sequencing (NGS) vs. Traditional gene-by-gene approach was evaluated on Diagnostic rate. Next-generation sequencing strategies yield a higher overall diagnostic rate for patients with skeletal muscle disorders compared to traditional gene-by-gene approaches.