Article
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Jun 2016
Nunn Laurence M, Lopes Luis R, Syrris Petros, Murphy Cian, Plagnol Vincent, Firman Eileen, Dalageorgou Chrysoula, Zorio Esther, Domingo Diana, Murday Victoria, Findlay Iain, Duncan Alexis, Carr-White Gerry, Robert Leema, Bueser Teofila, Langman Caroline, Fynn Simon P, Goddard Martin, White Anne, Bundgaard Henning, Ferrero-Miliani Laura, Wheeldon Nigel, Suvarna Simon K, O'Beirne Aliceson, Lowe Martin D, McKenna William J, Elliott Perry M, Lambiase Pier D
Abstract excerpt
AIMS: The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing has the potential to improve this yield. The primary aim of this study is to examine the feasibility and diagnostic utility of targeted exome screening in SADS victims, utilizing familial clinical screening whenever possible. METHODS AND RESULTS: To...
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