Article
Critical points for an accurate human genome analysis.
Human mutation - 1 Aug 2017
White Stefan J, Laros Jeroen F J, Bakker Egbert, Cambon-Thomsen Anne, Eden Martin, Leonard Samantha, Lochmüller Hanns, Matthijs Gert, Mattocks Christopher, Patton Simon, Payne Katherine, Scheffer Hans, Souche Erica, Thomassen Ellen, Thompson Rachel, Traeger-Synodinos Jan, Van Vooren Steven, Janssen Bart, den Dunnen Johan T
Abstract excerpt
Next-generation sequencing is radically changing how DNA diagnostic laboratories operate. What started as a single-gene profession is now developing into gene panel sequencing and whole-exome and whole-genome sequencing (WES/WGS) analyses. With further advances in sequencing technology and concomitant price reductions, WGS will soon become the standard and be routinely offered. Here, we focus on the critical...
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