Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

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 targete...

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發表在:Europace
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Oxford University Press 2016
主題:
Clinical Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5841561/
https://ncbi.nlm.nih.gov/pubmed/26498160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/europace/euv285
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