Article
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Human mutation - 1 Sept 2018
Overwater Eline, Marsili Luisa, Baars Marieke J H, Baas Annette F, van de Beek Irma, Dulfer Eelco, van Hagen Johanna M, Hilhorst-Hofstee Yvonne, Kempers Marlies, Krapels Ingrid P, Menke Leonie A, Verhagen Judith M A, Yeung Kak K, Zwijnenburg Petra J G, Groenink Maarten, van Rijn Peter, Weiss Marjan M, Voorhoeve Els, van Tintelen J Peter, Houweling Arjan C, Maugeri Alessandra
Abstract excerpt
Simultaneous analysis of multiple genes using next-generation sequencing (NGS) technology has become widely available. Copy-number variations (CNVs) in disease-associated genes have emerged as a cause for several hereditary disorders. CNVs are, however, not routinely detected using NGS analysis. The aim of this study was to assess the diagnostic yield and the prevalence of CNVs using our panel of Hereditary...
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