Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

2013244 citationsJournal Articlebronze Open Access

Authors

Luís R. Lopes · University College London

Anna Zekavati · University College London

Petros Syrris · University College London

Michael Hubank · University College London

Claudia Giambartolomei · University College London

Chrysoula Dalageorgou · University College London

Sharon Jenkins ·

Abstract

This study provides the first large-scale quantitative analysis of the prevalence of sarcomere protein gene variants in patients with HCM using HTS technology. Inclusion of other genes implicated in inherited cardiac disease identifies a large number of non-synonymous rare variants of unknown clinical significance.

Topics & Keywords

Cardiomyopathy and Myosin Studies Congenital heart defects research Studies on Chitinases and Chitosanases

Publication Details

Published in: Journal of Medical Genetics

Volume 50, Issue 4, pp. 228-239

DOI: 10.1136/jmedgenet-2012-101270

Field-Weighted Citation Impact: 19.01

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Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

Authors

Abstract

Topics & Keywords

Publication Details