Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy | Zendy

Francesco Mazzarotto | Zendy; Upasana Tayal | Zendy; Rachel Buchan | Zendy; William Midwinter | Zendy; Alicja Wilk | Zendy; Nicola Whiffin | Zendy; Risha Govind | Zendy; Erica Mazaika | Zendy; Antonio de Marvao | Zendy; Timothy J. W. Dawes | Zendy; Leanne E. Felkin | Zendy; Mian Ahmad | Zendy; Pantazis Theotokis | Zendy; Elizabeth Edwards | Zendy; Alexander Ing | Zendy; Kate Thomson | Zendy; Laura Chan | Zendy; David Sim | Zendy; A. John Baksi | Zendy; Antonis Pantazis | Zendy; Angharad M. Roberts | Zendy; Hugh Watkins | Zendy; Birgit Funke | Zendy; Declan P. O’Regan | Zendy; Iacopo Olivotto | Zendy; Paul J.R. Barton | Zendy; Sanjay Prasad | Zendy; Stuart A. Cook | Zendy; James S. Ware | Zendy; Roddy Walsh | Zendy

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

Author(s) -

Francesco Mazzarotto,

Upasana Tayal,

Rachel Buchan,

William Midwinter,

Alicja Wilk,

Nicola Whiffin,

Risha Govind,

Erica Mazaika,

Antonio de Marvao,

Timothy J. W. Dawes,

Leanne E. Felkin,

Mian Ahmad,

Pantazis Theotokis,

Elizabeth Edwards,

Alexander Ing,

Kate Thomson,

Laura Chan,

David Sim,

A. John Baksi,

Antonis Pantazis,

Angharad M. Roberts,

Hugh Watkins,

Birgit Funke,

Declan P. O’Regan,

Iacopo Olivotto,

Paul J.R. Barton,

Sanjay Prasad,

Stuart A. Cook,

James S. Ware,

Roddy Walsh

Publication year - 2020

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.119.037661

Subject(s) - medicine , dilated cardiomyopathy , gene , genetics , lmna , population , exome sequencing , exome , cohort , bioinformatics , mutation , biology , heart failure , environmental health

Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based on candidate-gene studies that did not adequately account for background population variation. Here we define the frequency of rare variation in 2538 patients with DCM across protein-coding regions of 56 commonly tested genes and compare this to both 912 confirmed healthy controls and a reference population of 60 706 individuals to identify clinically interpretable genes robustly associated with dominant monogenic DCM.

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