Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

ABSTRACT:

Background

Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.

Methods

Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease, family history, clinical presentation, and diagnostic workup. Exome target capture was performed, followed by sequencing on HiSeq 2500 or MiSeq platforms. Data analysis was performed using internally developed bioinformatic pipeline.

Results

The study comprised 86 patients, including 22 paediatric cases (26%). The largest group were patients referred with an unspecified myopathy (47%), due to non-specific or incomplete clinical and laboratory findings, followed by congenital

SUBMITTER: Babic Bozovic I 

PROVIDER: S-EPMC8189452 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature