Next-Generation Sequencing and its Applications

Document Type : Review Article


1 MSc Student, Pediatric Inherited Disease Research Center, Research Institute for Primordial Prevention of Non-communicable Diseases AND Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

2 PhD Student, Biotechnology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran


DNA sequencing is an approach exploited to determine the sequence of a DNA molecule. It includes any method or technology used to identify and determine the order of the four bases of adenine, guanine, cytosine, and thymine in a strand of DNA. DNA sequencing might be used to determine the sequence of individual genes, larger genetic regions, full chromosomes, or entire genomes. Traditional sequencing methods are mainly based on the original Sanger sequencing technique which makes them very expensive and low-throughput; thus, they do not meet the needs of researchers. Consequently, with the considerable advances in molecular biology and the high demand for low-cost sequencing has encouraged the development of high-throughput sequencing (or next-generation sequencing) technologies that parallelize the sequencing process, producing thousands or millions of sequences concurrently. Next-generation sequencing enable us to rapidly sequence a large piece of DNA which could span the whole genome with the latest instruments capable of producing gigabases of data in one isolated sequencing run. Next-generation sequencing platforms have a wide variety of applications, such as whole-genome sequencing, de novo sequencing, RNA sequencing (for applications such as transcriptomics and small RNA analysis), methylation analysis, and protein-nucleic acid interaction analysis.


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