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Heart Rhythm. 2015 May;12(5):1062-70. doi: 10.1016/j.hrthm.2015.01.011. Epub 2015 Jan 24.

Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes.

Author information

1
Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, and Medical and Population Genetics Program, The Broad Institute, Cambridge, Massachusetts. Electronic address: slubitz@mgh.harvard.edu.
2
Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, and Medical and Population Genetics Program, The Broad Institute, Cambridge, Massachusetts.

Abstract

Inherited arrhythmia syndromes are collectively associated with substantial morbidity, yet our understanding of the genetic architecture of these conditions remains limited. Recent technological advances in DNA sequencing have led to the commercialization of genetic testing now widely available in clinical practice. In particular, next-generation sequencing allows the large-scale and rapid assessment of entire genomes. Although next-generation sequencing represents a major technological advance, it has introduced numerous challenges with respect to the interpretation of genetic variation and has opened a veritable floodgate of biological data of unknown clinical significance to practitioners. In this review, we discuss current genetic testing indications for inherited arrhythmia syndromes, broadly outline characteristics of next-generation sequencing techniques, and highlight challenges associated with such testing. We further summarize future directions that will be necessary to address to enable the widespread adoption of next-generation sequencing in the routine management of patients with inherited arrhythmia syndromes.

KEYWORDS:

Arrhythmia; Genetics; Mutation; Sequencing

PMID:
25625719
PMCID:
PMC4410060
DOI:
10.1016/j.hrthm.2015.01.011
[Indexed for MEDLINE]
Free PMC Article
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