Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

ABSTRACT:

Background

Genetic evaluation of cardiomyopathies poses a challenge. Multiple genes are involved but no clear genotype-phenotype correlations have been found so far. In the past, genetic evaluation for hypertrophic (HCM) and dilated (DCM) cardiomyopathies was performed by sequential screening of a very limited number of genes. Recent developments in sequencing have increased the throughput, enabling simultaneous screening of multiple genes for multiple patients in a single sequencing run.

Objective

Development and implementation of a next generation sequencing (NGS) based genetic test as replacement for Sanger sequencing.

Methods and results

In order to increase the number of genes that can be screened in a shorter time period, we enriched all exons of 23 of the most

SUBMITTER: Mook OR 

PROVIDER: S-EPMC3756457 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature