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

Abstract

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.

Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy

“…Therefore, studying genetic variants in tissue samples of breast cancer patients will aid in individualizing therapy with better outcomes [ 9 ]. Next-generation sequencing allows multiple parallel sequencing of several genes at same time [ 16 ]. While genome-wide analysis has the most significant role in the classification of breast cancer, targeted sequencing gives deeper coverage through reducing the number of analyzed genes [ 17 , 18 ].…”