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Future perspectives of genome-scale sequencing

Wouter Steyaert (UGent) , Steven Callens (UGent) , Paul Coucke (UGent) , Bart Dermaut (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn and Bruce Poppe (UGent)
(2018) ACTA CLINICA BELGICA. 73(1). p.7-10
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Abstract
Introduction: In recent decades, we witnessed a revolution in genetic technology. Some 20 years ago, analysing a single gene was quite laborious and time-consuming. In addition, diagnostic testing was only available for selected genes. Nowadays, whole exome analysis - a technique enabling sequencing of all protein coding sequences in the entire genome - is gradually introduced in a clinical setting. Whole genome sequencing forms the ultimate exponent of this evolution and offers an even broader application. Methods: A review of the application of these technologies in a diagnostic setting is presented. Results: Whole exome sequencing has a prominent place in modern clinical diagnostics. It offers a cost-and time-efficient way to interrogate all protein coding portions of the genome leading to a quick and adequate diagnosis, also in cases of phenotypic heterogeneity. As sequencing costs continue to drop, whole genome sequencing will take over in the near future guaranteeing a further improvement of the quality of genetic testing. Conclusion: Due to technological advances in the past decades, the field of clinical diagnostics has changed dramatically. With techniques such as whole exome and whole genome sequencing, the diagnostic yield increases serving both the patient and the health care system.
Keywords
Rare diseases, whole exome sequencing, whole genome sequencing, next-generation sequencing, ACMG RECOMMENDATIONS, EXOME, DIAGNOSIS, STANDARDS

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Chicago
Steyaert, Wouter, Steven Callens, Paul Coucke, Bart Dermaut, Dimitri Hemelsoet, Wim Terryn, and Bruce Poppe. 2018. “Future Perspectives of Genome-scale Sequencing.” Acta Clinica Belgica 73 (1): 7–10.
APA
Steyaert, W., Callens, S., Coucke, P., Dermaut, B., Hemelsoet, D., Terryn, W., & Poppe, B. (2018). Future perspectives of genome-scale sequencing. ACTA CLINICA BELGICA, 73(1), 7–10.
Vancouver
1.
Steyaert W, Callens S, Coucke P, Dermaut B, Hemelsoet D, Terryn W, et al. Future perspectives of genome-scale sequencing. ACTA CLINICA BELGICA. 2018;73(1):7–10.
MLA
Steyaert, Wouter, Steven Callens, Paul Coucke, et al. “Future Perspectives of Genome-scale Sequencing.” ACTA CLINICA BELGICA 73.1 (2018): 7–10. Print.
@article{8547331,
  abstract     = {Introduction: In recent decades, we witnessed a revolution in genetic technology. Some 20 years ago, analysing a single gene was quite laborious and time-consuming. In addition, diagnostic testing was only available for selected genes. Nowadays, whole exome analysis - a technique enabling sequencing of all protein coding sequences in the entire genome - is gradually introduced in a clinical setting. Whole genome sequencing forms the ultimate exponent of this evolution and offers an even broader application. 
Methods: A review of the application of these technologies in a diagnostic setting is presented. 
Results: Whole exome sequencing has a prominent place in modern clinical diagnostics. It offers a cost-and time-efficient way to interrogate all protein coding portions of the genome leading to a quick and adequate diagnosis, also in cases of phenotypic heterogeneity. As sequencing costs continue to drop, whole genome sequencing will take over in the near future guaranteeing a further improvement of the quality of genetic testing. 
Conclusion: Due to technological advances in the past decades, the field of clinical diagnostics has changed dramatically. With techniques such as whole exome and whole genome sequencing, the diagnostic yield increases serving both the patient and the health care system.},
  author       = {Steyaert, Wouter and Callens, Steven and Coucke, Paul and Dermaut, Bart and Hemelsoet, Dimitri and Terryn, Wim and Poppe, Bruce},
  issn         = {1784-3286},
  journal      = {ACTA CLINICA BELGICA},
  keyword      = {Rare diseases,whole exome sequencing,whole genome sequencing,next-generation sequencing,ACMG RECOMMENDATIONS,EXOME,DIAGNOSIS,STANDARDS},
  language     = {eng},
  number       = {1},
  pages        = {7--10},
  title        = {Future perspectives of genome-scale sequencing},
  url          = {http://dx.doi.org/10.1080/17843286.2017.1413809},
  volume       = {73},
  year         = {2018},
}

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