DNA Sequencing Evolving With Groundbreaking Technology

Cutting-edge technologies are making DNA sequencing possible at a low cost and higher speed.

Fremont, CA: Emerging technologies that enable next-generation DNA sequencing (NGS) are rapidly advancing. This shift has far-reaching ramifications for biomedical research and clinical practice (Adams and Eng, 2018). Today's NGS technology is substantially faster and less expensive than the previous Sanger sequencing technique, resulting in higher sequencing yield.

To achieve massively parallel DNA sequencing, a combination of neighboring technologies, such as nanotechnology (nanopores), and complementary methodologies, such as in situ nucleic acid sequencing and microscopy-based sequencing, was critical (Kumar et al., 2019). This encouraged the use of next-generation sequencing (NGS) technology to reveal the complex biological settings around disease mechanisms. Their application for genetic diagnosis is currently attracting a lot of interest. To achieve massively parallel DNA sequencing, a combination of neighboring technologies, such as nanotechnology (nanopores), and complementary methodologies, such as in situ nucleic acid sequencing and microscopy-based sequencing, was critical (Kumar et al., 2019). This encouraged the use of next-generation sequencing (NGS) technology to reveal the complex biological settings around disease mechanisms. Their application for genetic diagnosis is currently attracting a lot of interest.

Sequencing by ligation (SBL) and sequencing by synthesis are the two main methods used in next-generation sequencing (NGS), also known as second-generation sequencing or high throughput sequencing (SBS). These cutting-edge technologies have made it possible to sequence many samples in parallel at a previously unheard-of speed and low cost. Indeed, the introduction of NGS technology has resulted in significant advancement in life science research and clinical diagnostics over the previous decade.

The entire human genome can now be sequenced in a single day. Paired-end (PE) sequencing has been a significant advancement in NGS technology. PE sequencing allows the DNA molecule to be read and scrutinized in both directions (forward and reverse) and generates twice the amount of evidence from each genetic fragment for the same amount of money and effort. As a result, the entire sequencing process was considerably enhanced, including sample extraction, genetic library construction, quantification, cluster production, fragment sequencing, data analysis, workflow, and data visualization.

Because of the enormous cost reductions achieved through a high throughput approach to DNA sequencing, NGS technologies have significantly impacted molecular diagnostics. DNA sequencing technology-based methodologies have paved the path for genetic prediction of human diseases with a precision medicine approach by enabling the rapid and reliable sequencing of many genes at once. Precision medicine aims to use genomic information to deliver the right treatment to the right patient at the right time. Precision oncology is causing this tendency to become more widespread in cancer treatment. NGS technology has made it possible to analyze the whole-genome sequence (WGS) and whole-exome sequencing (WES) of tumors in a systematic way. Indeed, NGS has aided precision oncology by speeding up targeted genome profiling and transcriptome sequencing in a variety of tumors, revealing the presence of gene changes and mutation carriers that could lead to cancer. To put it another way, NGS aids in the creation of a consistent molecular representation of a wide range of malignancies in a timely and cost-effective manner.