Article
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
European journal of human genetics : EJHG - 1 Sept 2015
Vrijenhoek Terry, Kraaijeveld Ken, Elferink Martin, de Ligt Joep, Kranendonk Elcke, Santen Gijs, Nijman Isaac J, Butler Derek, Claes Godelieve, Costessi Adalberto, Dorlijn Wim, van Eyndhoven Winfried, Halley Dicky J J, van den Hout Mirjam C G N, van Hove Steven, Johansson Lennart F, Jongbloed Jan D H, Kamps Rick, Kockx Christel E M, de Koning Bart, Kriek Marjolein, Lekanne Dit Deprez Ronald, Lunstroo Hans, Mannens Marcel, Mook Olaf R, Nelen Marcel, Ploem Corrette, Rijnen Marco, Saris Jasper J, Sinke Richard, Sistermans Erik, van Slegtenhorst Marjon, Sleutels Frank, van der Stoep Nienke, van Tienhoven Marianne, Vermaat Martijn, Vogel Maartje, Waisfisz Quinten, Marjan Weiss Janneke, van den Wijngaard Arthur, van Workum Wilbert, Ijntema Helger, van der Zwaag Bert, van IJcken Wilfred F J, den Dunnen Johan, Veltman Joris A, Hennekam Raoul, Cuppen Edwin
Abstract excerpt
Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical discussions on the consequences of such choices, we compared NGS-based diagnostic practices in eight clinical genetic centers in the Netherlands...
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