Next Generation Sequencing (NGS)

Next Generation Sequencing
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Introduction
Next-Generation Sequencing (NGS) has been a revolutionary departure from traditional DNA sequencing techniques hence pivotal advancement in genomics. This high-throughput sequencing comprises a variety of technologies and methodologies that have been meticulously crafted to efficiently and swiftly determine the sequence of nucleotides found within DNA and RNA molecules. This transformative approach has not only reshaped the genetic research landscape. Still, it has also revealed extensive applications across many scientific domains, ranging from molecular biology and clinical diagnostics to evolutionary biology and environmental sciences. Ultimately, NGS has led to a paradigm shift in genomics and molecular biology research, delivering potent tools for decoding DNA and RNA sequences, resulting in momentous discoveries, clinical progress, and an overall transformative influence on scientific exploration and patient healthcare.
Evolution and Technologies of NGS
Historical Development of NGS
The historical development of Next-Generation Sequencing (NGS) is a testament to the rapid progress in genomics research. Initially, DNA sequencing relied on the laborious Sanger method, a groundbreaking technique in its own right. However, the limitations of Sanger sequencing in terms of cost and throughput prompted the search for more efficient alternatives (Morganti et al. 2019). Significant milestones marked the transition from Sanger to NGS. In the early 2000s, the 454 Pyrosequencing platform introduced the concept of massively parallel sequencing, enabling the simultaneous sequencing of thousands of DNA fragments. Illumina's Solexa sequencing technology, unveiled in 2006, further catapulted NGS into the mainstream by significantly reducing costs and expanding sequencing capacity (Giani et al. 2020). Developing other platforms, such as the SOLiD system and Ion Torrent sequencing, contributed to the diversity of current NGS technologies. These advancements collectively revolutionized genomics by making large-scale sequencing projects more accessible and cost-effective.
NGS Technologies and Platforms
The landscape of NGS technologies is characterized by numerous platforms, each with unique attributes. Illumina's sequencing-by-synthesis technology dominates the field due to its accuracy and scalability. Ion Torrent sequencing, based on semiconductor sequencing, offers rapid turnaround times. Roche's 454 sequencing, while phased out, played a pivotal role in early NGS adoption (Kukurba & Montgomery, 2015). Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT) introduced single-molecule sequencing, providing long-read capabilities invaluable for resolving complex genomic regions (Robin et al., 2016). Third-generation sequencing technologies like ONT's nanopore sequencing have also pushed the boundaries of read length and opened new possibilities in genomics research.
Applications of NGS
NGS has indelibly reshaped the landscape of genomic research, underpinned by numerous impactful discoveries and applications. For instance, the Human Genome Project, which once spanned over a decade and incurred colossal expenses, was radically accelerated and cost-efficiently completed with NGS technologies. This monumental achievement delivered a comprehensive reference genome and paved the way for many subsequent studies dissecting genetic variations' associations with diseases and identifying crucial regulatory elements. In clinical applications, NGS has been instrumental in realizing the promise of personalized medicine. For instance, it enables the identification of specific genetic mutations driving cancers, facilitating tailored therapies like targeted therapies and immunotherapies. Moreover, in diagnosing rare genetic diseases, NGS has revolutionized the diagnostic field by...