Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

ABSTRACT:

Objective

To establish and evaluate the effectiveness of a comprehensive next-generation sequencing (NGS) approach to simultaneously analyze all genes known to be responsible for the most clinically and genetically heterogeneous neuromuscular diseases (NMDs) involving spinal motoneurons, neuromuscular junctions, nerves, and muscles.

Methods

All coding exons and at least 20 bp of flanking intronic sequences of 236 genes causing NMDs were enriched by using SeqCap EZ solution-based capture and enrichment method followed by massively parallel sequencing on Illumina HiSeq2000.

Results

The target gene capture/deep sequencing provides an average coverage of ∼1,000× per nucleotide. Thirty-five unrelated NMD families (38 patients) with clinical and/or muscle pathologic diagnos

SUBMITTER: Tian X 

PROVIDER: S-EPMC4807910 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature