Next-Generation Sequencing (NGS)

  • Sakineh Abbasi, Saeedeh Masoumi


In the last decade, by the advent of next-generation sequencing technology, sequencing the genes and diagnosis of genetic diseases has entered a new field. Using this technique, it is possible to identify the genetic which it leads to many diseases and syndromes, including congenital anomalies and disorders. These diseases and syndromes are previously characterized by the limitations of the techniques used as "unknown causes". In fact, NGS technology consists of a series of methods consisting of initial preparation and segmentation of the sample of the studied genome, sequencing, imaging, visualization, assembling of sequenced components, and data analysis. The applications of this new method can accomplish a remarkable improvement in the diagnosis of genetic diseases, pre-implantation genetic diagnosis, pharmacogenomics, epigenetics, and the identification of structural variations in the genome. The present paper briefly describes the NGS technique, its importance and application in molecular diagnosis of genetic diseases briefly.

How to Cite
Saeedeh Masoumi, S. A. (2020). Next-Generation Sequencing (NGS). International Journal of Advanced Science and Technology, 29(3), 6364 - 6377. Retrieved from