The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases

Authors

  • Hieu T. Nguyen* Vinmec Research Institute of Stem Cell and Gene Technology, Vinmec International Hospitals, Hanoi, Vietnam
  • Huong T.T. Le Vinmec Research Institute of Stem Cell and Gene Technology, Vinmec International Hospitals, Hanoi, Vietnam
  • Liem T. Nguyen Vinmec Research Institute of Stem Cell and Gene Technology, Vinmec International Hospitals, Hanoi, Vietnam
  • Hua Lou Department of Genetics and Genome Sciences, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA
  • Thomas LaFramboise Department of Genetics and Genome Sciences, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA

Abstract

Next-generation sequencing (NGS) is a high throughput sequencing technology, which has revolutionized both basic and clinical research of the human genetic disorders. This technology is also called massively parallel sequencing (MPS) due to its ability to generate a huge amount of output data in a cost- and time-effective manner. NGS is widely utilized for different sequencing applications such as targeted sequencing (a group of candidate genes), exome sequencing (all coding regions), and whole genome sequencing (the entire human genome). With NGS, a variety of genomic aberrations can be screened simultaneously such as common and rare variants, structural variations (amplifications and deletion), copy-number variation, and fusion transcripts. NGS technologies combined with advanced bioinformatic analysis have tremendously expanded our knowledge. On the one hand, the basic research area involves direct use of NGS to identify novel variations and determine human disease mechanisms. On the other hand, clinical research is being advanced by highthroughput genetic tests with high resolution and clinically relevant genetic information for molecular diagnoses of human disorders. In this communication, we introduce NGS technologies and review a few key areas where NGS has made a significant impact, with an emphasis on the application of NGS to the identification of the molecular bases of human genetic diseases.

Keywords:

human genetic diseases, massively parallel sequencing, molecular diagnosis, next-generation sequencing

DOI:

https://doi.org/10.31276/VJSTE.60(2).30

Classification number

3.2, 3.5

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Published

2018-06-15

Received 2 February 2018; accepted 22 May 2018

How to Cite

Hieu T. Nguyen, Huong T.T. Le, Liem T. Nguyen, Hua Lou, & Thomas LaFramboise. (2018). The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases. Vietnam Journal of Science, Technology and Engineering, 60(2), 30-43. https://doi.org/10.31276/VJSTE.60(2).30

Issue

Section

Life Sciences