Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

ABSTRACT:

Background

Clinical interpretation of the large number of rare variants identified by high throughput sequencing (HTS) technologies is challenging. The aim of this study was to explore the clinical implications of a HTS strategy for patients with hypertrophic cardiomyopathy (HCM) using a targeted HTS methodology and workflow developed for patients with a range of inherited cardiovascular diseases. By comparing the sequencing results with published findings and with sequence data from a large-scale exome sequencing screen of UK individuals, we sought to quantify the strength of the evidence supporting causality for detected candidate variants.

Methods and results

223 unrelated patients with HCM (46±15 years at diagnosis, 74% males) were studied. In order to analyse coding, in

SUBMITTER: Lopes LR 

PROVIDER: S-EPMC3607113 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature