Περίληψη:
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.
Συγγραφείς:
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.
Λέξεις-κλειδιά:
genomic DNA; MECP2 protein, human; methyl CpG binding protein 2, diagnostic accuracy; DNA damage; DNA degradation; DNA isolation; DNA replication; gene amplification; gene structure; genetic variability; genomic instability; haplotype; human; next generation sequencing; practice guideline; priority journal; quality control; Review; sequence alignment; single nucleotide polymorphism; whole exome sequencing; whole genome sequencing; exome; genetics; high throughput sequencing; human genome, Exome; Genome, Human; High-Throughput Nucleotide Sequencing; Humans; Methyl-CpG-Binding Protein 2; Polymorphism, Single Nucleotide
