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Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16.

Critical points for an accurate human genome analysis.

Author information

1
Department of Human Genetics, Leiden University Medical Center, The Netherlands.
2
Clinical Genetics, Leiden University Medical Center, The Netherlands.
3
GenomeScan, Leiden, The Netherlands.
4
Epidemiology and Public Health Analyses, Inserm and Université Toulouse III Paul Sabatier, Toulouse, UMR 1027, France.
5
Manchester Centre for Health Economics, University of Manchester, Manchester, UK.
6
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
7
Catholic University Leuven, Leuven, Belgium.
8
Wessex Regional Genetic Laboratory, Salisbury, UK.
9
Central Manchester University Hospitals Foundation Trust, EMQN, Manchester, UK.
10
UMC St. Radboud, Nijmegen, The Netherlands.
11
Medical Genetics, National and Kapodistrian University of Athens, Greece.
12
Agilent Technologies, Lexington, Massachusetts.

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 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.

KEYWORDS:

bioinformatics; genetic variation; next-generation sequencing; whole-exome sequencing; whole-genome sequencing

PMID:
28471515
DOI:
10.1002/humu.23238
[Indexed for MEDLINE]

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