Why the study?
The study was conducted to evaluate the diagnostic yield of an 89-gene panel in patients with suspected muscle disorders and to compare the diagnostic yield of gene panel versus exome sequencing approaches.
What is the diagnostic yield of an 89-gene panel compared to exome sequencing in patients with suspected muscle disorders?
What is the diagnostic yield of an 89-gene panel compared to exome sequencing in patients with suspected muscle disorders?
Gene panel testing is effective for diagnosing suspected muscle disorders, while exome sequencing offers a potentially higher diagnostic yield with a low risk of missing diagnoses.
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Panel yields molecular diagnosis in 15% of suspected cases; leaves open optimal sequencing strategy for muscle disorders.
Thuriot et al. (2020) studied this question.
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