Currently, cutting-edge technology and medical advancements have constantly emerged. Genetic studies are able to identify exact changes in DNA sequence and their consequences associated with hereditary risks, enabling precise interventions and disease prevention to be performed in a timely manner.
Next-Generation Sequencing (NGS) is the latest and well-acknowledged genetic mutation detection technique used in genetic field for a wide range of purposes. NGS is a parallel sequencing technology that offers ultra-high throughput, scalability and speed. The technology is used to determine the sequence of nucleotides in entire genomes or targeted regions of DNA or RNA. Moreover, NGS can also sequence unknown nucleotides, enabling more comprehensive detection of mutations than other sequencing techniques.
Next- Generation Sequencing (NGS) technologies include:
Whole Genome
Sequencing (WGS)
Whole-Genome Sequencing (WGS) or full genome sequencing is used to study the sequencing of whole genome nucleotides in our body, including both the coding region (exon) and the non-coding region. However, WGS is considered costly technique. In addition, due to a large amount of genetic information, WGS takes a long time to analyze the whole data. More importantly, certain changes in the nucleotide sequence in the non-coding region are often difficult to explain or to draw a conclusion since it is the portion of DNA that is not encoded into a protein.
Whole Exome
Sequencing (WES)
Whole-Exome Sequencing (WES) is a widely used NGS method that involves sequencing the protein-coding regions of the genome which are often associated with the diseases. WES technology has been currently applied to a wide range of applications, such as identifying single gene disorders (Mendelian inheritance disorders), identifying susceptibility genes and mutations of cancer related genes. In comparison to WGS, WES technology becomes more popular in diagnostic tests and researches as WES is considerably cheaper and obtained data from WES takes less time to analyze.
Targeted Gene
Sequencing
Targeted Gene Sequencing is a sequencing technique that studies nucleotide sequences in specific genes which are related to the diseases. Nowadays, Targeted Gene Sequencing is used for diagnosis and research in oncology (cancer gene panel), for example, lung cancer panel, leukemia panel and breast cancer panel. In breast cancer, Targeted Gene Sequencing helps to detect the mutation of BRCA1 and BRCA2 genes that are proven to significantly increase risk of developing hereditary breast cancer and ovarian cancer.