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Critical points for an accurate human genome analysis.

White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT.

Hum Mutat. 2017 Aug;38(8):912-921.

This article is published with contributions of GenomeScan.

“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.”

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