Next-generation sequencing technologies and its applications in genomics and molecular diagnostics.

Sheyda Khalilian ,1,* Halimeh rezaei,2

1. Division of Genetics, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran, IR Iran
2. Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran, IR Iran



Introduction of the sanger sequencing method in the 1970s, has enabled sequencing of clonal dna populations and advances in genetics and molecular biology; however, the low-throughput and high cost of sanger sequencing limited its complex genome analyses. the recent introduction of next-generation sequencing (ngs) technology, has overcome these problems and large number of dna molecules can be sequenced in parallel and in this way the need for fragment-cloning method that often used in sanger sequencing is minimized; moreover, ngs provides a possible way to obtaining genomic information about patients. in this review, we try to introduce ngs technology and also its increasing use in molecular diagnosis of genetic diseases is briefly investigated.


Article searches were conducted using several internet search engines such as pubmed and scopus. the articles collected from list of 2017 to present.


Ngs technologies are increasingly being applied to many aspects of research, including dna database construction, monozygotic twin studies, body fluid and species identification and it have been comprehensively applied in a variety of ways such as whole genome sequencing, whole exome sequencing, target sequencing, chip-seq and rna-seq. since the massive amount of data generated by ngs, represents a great challenge, an integrated software system is needed for variant detection and integration of different types of data.


Ngs technologies have reduced the cost of dna sequencing and increased speed and throughput by producing massive data. to transfer ngs technologies to molecular diagnostics, the validation of genome variations associated with clinically meaningful phenotypes and also developing informatics tools for variant identification and reducing the sequencing cost, need to be addressed.


Next-generation sequencing, genomics, molecular diagnostics, whole genome sequencing