Critical points for an accurate human genome analysis |
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| Authors: | Johan T. den Dunnen |
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| Affiliation: | 1. Department of Human Genetics, Leiden University Medical Center, The Netherlands;2. Clinical Genetics, Leiden University Medical Center, The NetherlandsThese authors are members of 3Gb‐TEST consortium. |
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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 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. |
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| Keywords: | bioinformatics genetic variation next‐generation sequencing whole‐exome sequencing whole‐genome sequencing |
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