Next-generation sequencing to identify genetic causes of cardiomyopathies.

Abstract:

PURPOSE OF REVIEW:This review examines the application of next-generation sequencing (NGS) technologies in the identification of the causation of nonsyndromic genetic cardiomyopathies. RECENT FINDINGS:NGS sequencing of the entire genetic coding sequence (the exome) has successfully identified five novel genes and causative variants for cardiomyopathies without previously known cause within the last 12 months. Continual rapidly decreasing costs of NGS will shortly allow cost-effective sequencing of the entire genomes of affected individuals and their relatives to include noncoding and regulatory variant discovery and epigenetic profiling. Despite this rapid technological progress with sequencing, analysis of these large data sets remains challenging, particularly for assigning causality to novel rare variants identified in DNA samples from patients with cardiomyopathy. SUMMARY:NGS technologies are rapidly moving to identify novel rare variants in patients with cardiomyopathy, but assigning pathogenicity to these novel variants remains challenging.

journal_name

Curr Opin Cardiol

authors

Norton N,Li D,Hershberger RE

doi

10.1097/HCO.0b013e328352207e

subject

Has Abstract

pub_date

2012-05-01 00:00:00

pages

214-20

issue

3

eissn

0268-4705

issn

1531-7080

journal_volume

27

pub_type

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