Copy number variation analysis increases the diagnostic yield in muscle diseases.

ABSTRACT:

Objective

Copy number variants (CNVs) were analyzed from next-generation sequencing data, with the aim of improving diagnostic yield in skeletal muscle disorder cases.

Methods

Four publicly available bioinformatic analytic tools were used to analyze CNVs from sequencing data from patients with muscle diseases. The patients were previously analyzed with a targeted gene panel for single nucleotide variants and small insertions and deletions, without achieving final diagnosis. Variants detected by multiple CNV analysis tools were verified with either array comparative genomic hybridization or PCR. The clinical significance of the verified CNVs was interpreted, considering previously identified variants, segregation studies, and clinical information of the patient cases.

Resu

SUBMITTER: Valipakka S 

PROVIDER: S-EPMC6140371 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature