Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.

ABSTRACT:

Background

Rapidly determining the complex genetic basis of Hypertrophic cardiomyopathy (HCM) is vital to better understanding and optimally managing this common polygenetic cardiovascular disease.

Methods

A rapid custom Ion-amplicon-resequencing assay, covering 30 commonly affected genes of HCM, was developed and validated in 120 unrelated patients with HCM to facilitate genetic diagnosis of this disease. With this HCM-specific panel and only 20 ng of input genomic DNA, physicians can, for the first time, go from blood samples to variants within a single day.

Results

On average, this approach gained 595628 mapped reads per sample, 95.51% reads on target (64.06 kb), 490-fold base coverage depth and 93.24% uniformity of base coverage in CDS regions of the 30 HCM genes.

SUBMITTER: Li Z 

PROVIDER: S-EPMC4072843 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature