July 7, 2019  |  

Critical points for an accurate human genome analysis.

Authors: White, Stefan J and Laros, Jeroen F J and Bakker, Egbert and Cambon-Thomsen, Anne and Eden, Martin and Leonard, Samantha and Lochmüller, Hanns and Matthijs, Gert and Mattocks, Christopher and Patton, Simon and Payne, Katherine and Scheffer, Hans and Souche, Erica and Thomassen, Ellen and Thompson, Rachel and Traeger-Synodinos, Jan and Van Vooren, Steven and Janssen, Bart and den Dunnen, Johan T

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 steps involved in performing WGS, with a particular emphasis on points where WGS differs from WES, the important variables that should be taken into account, and the quality control measures that can be taken to monitor the process. The points discussed here, combined with recent publications on guidelines for reporting variants, will facilitate the routine implementation of WGS into a diagnostic setting.© 2017 Wiley Periodicals, Inc.

Journal: Human mutation
DOI: 10.1002/humu.23238
Year: 2017

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