Critical points for an accurate human genome analysis

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

doi:10.1002/humu.23238

Critical points for an accurate human genome analysis

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

Division of Population Health, Health Services Research & Primary Care (L5)

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Abstract

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 genome sequencing (WES/WGS) analyses. With further advances in sequencing technology and concomitant price reductions, whole genome sequencing (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. This article is protected by copyright. All rights reserved.

Original language	English
Journal	Human Mutation
Early online date	4 May 2017
DOIs	https://doi.org/10.1002/humu.23238
Publication status	Published - 2017

Keywords

Journal Article
Review

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White, S. J., Laros, J. F. J., 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, J. T. (2017). Critical points for an accurate human genome analysis. Human Mutation. https://doi.org/10.1002/humu.23238

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AU - White, Stefan J

AU - Laros, Jeroen F J

AU - Bakker, Egbert

AU - Cambon-Thomsen, Anne

AU - Eden, Martin

AU - Leonard, Samantha

AU - Lochmüller, Hanns

AU - Matthijs, Gert

AU - Mattocks, Christopher

AU - Patton, Simon

AU - Payne, Katherine

AU - Scheffer, Hans

AU - Souche, Erica

AU - Thomassen, Ellen

AU - Thompson, Rachel

AU - Traeger-Synodinos, Jan

AU - van Vooren, Steven

AU - Janssen, Bart

AU - den Dunnen, Johan T

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AB - 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 genome sequencing (WES/WGS) analyses. With further advances in sequencing technology and concomitant price reductions, whole genome sequencing (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. This article is protected by copyright. All rights reserved.

KW - Journal Article

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SN - 1059-7794

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Critical points for an accurate human genome analysis

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