Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

ABSTRACT: Medical sequencing for diseases with locus and allelic heterogeneities has been limited by the high cost and low throughput of traditional sequencing technologies. "Second-generation" sequencing (SGS) technologies allow the parallel processing of a large number of genes and, therefore, offer great promise for medical sequencing; however, their use in clinical laboratories is still in its infancy. Our laboratory offers clinical resequencing for dilated cardiomyopathy (DCM) using an array-based platform that interrogates 19 of more than 30 genes known to cause DCM. We explored both the feasibility and cost effectiveness of using PCR amplification followed by SGS technology for sequencing these 19 genes in a set of five samples enriched for known sequence alterations (109 unique substitutions

SUBMITTER: Gowrisankar S 

PROVIDER: S-EPMC2963910 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature