Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

ABSTRACT:

Aims

Despite our increased understanding of the genetic basis of dilated cardiomyopathy (DCM), the clinical utility and yield of clinically meaningful findings of comprehensive next-generation sequencing (NGS)-based genetic diagnostics in DCM has been poorly described. We utilized a high-quality oligonucleotide-selective sequencing (OS-Seq)-based targeted sequencing panel to investigate the genetic landscape of DCM in Finnish population and to evaluate the utility of OS-Seq technology as a novel comprehensive diagnostic tool.

Methods and results

Using OS-Seq, we targeted and sequenced the coding regions and splice junctions of 101 genes associated with cardiomyopathies in 145 unrelated Finnish patients with DCM. We developed effective bioinformatic variant filtering strategy

SUBMITTER: Akinrinade O 

PROVIDER: S-EPMC4561350 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature