Next-generation sequencing (NGS) is a powerful tool that is revolutionizing biomedical research. NGS is a collection of high-throughput technologies that have revolutionized the field of genomics and that allow scientists to sequence the DNA or RNA of a sample in parallel, producing millions or even billions of sequences at once. This has made it possible to sequence entire genomes and transcriptomes at a relatively low cost, and has opened up a wide range of new applications in biomedical research.
The Story Behind NGS: A Technological Odyssey
The advent of Next-Generation Sequencing marks a transformative chapter in the history of genetic research. Born out of the Human Genome Project‘s ambitious pursuit to decipher the entire human genetic code, NGS emerged as a technological marvel, overcoming the limitations of traditional sequencing methods. In the early 2000s, scientists sought a more efficient and cost-effective means to unravel the complexities of DNA.
The breakthrough came with the introduction of NGS, enabling researchers to parallelize the sequencing process, dramatically increasing throughput and reducing costs. This revolutionary technology evolved rapidly, paving the way for unprecedented advancements in genomics, personalized medicine, and beyond. The narrative of NGS is not just a scientific saga; it’s a testament to human ingenuity, pushing the boundaries of what was once deemed impossible and opening new frontiers in our understanding of the building blocks of life.
How Does NGS Work?
NGS technologies are based on a variety of principles, but they all share the common goal of fragmenting a sample of DNA or RNA into small pieces, sequencing those pieces, and then assembling the sequences back into a complete genome or transcriptome.
One of the most common NGS platforms is the Illumina platform. This platform uses a process called reversible terminator chemistry to sequence DNA fragments. In this process, DNA fragments are attached to a flow cell and then extended one base at a time. After each base is added, the flow cell is imaged to determine which base was added. This process is repeated until the entire DNA fragment is sequenced.
Another common NGS platform is the Ion Torrent platform. This platform uses a semiconductor chip to sequence DNA fragments. In this process, DNA fragments are attached to the chip and then exposed to different ions. The ions bind to the DNA bases in a specific way, and the chip is then imaged to determine which bases are present in each fragment.
Applications of NGS
NGS has a wide range of applications in biomedical research, including:
- Whole-genome sequencing (WGS): WGS is the sequencing of an entire genome. WGS can be used to identify genetic variants that are associated with diseases, to study the genetic diversity of populations, and to develop new diagnostic tests.
- Whole-exome sequencing (WES): WES is the sequencing of all of the exons in a genome. Exons are the parts of genes that code for proteins. WES can be used to identify genetic variants that cause rare genetic diseases.
- Transcriptome sequencing (RNA-seq): RNA-seq is the sequencing of all of the RNA transcripts in a cell. RNA-seq can be used to study gene expression, to identify alternative splicing events, and to discover new genes.
- Metagenomics: Metagenomics is the sequencing of all of the DNA in a sample from a complex environment, such as the human microbiome or the soil. Metagenomics can be used to identify new microbes, to study the interactions between microbes and their environment, and to develop new diagnostic and therapeutic tools.
By sequencing DNA and RNA from a variety of samples, NGS is helping scientists to understand the genetic basis of diseases, to develop new diagnostic tests, and to develop new treatments.
3 Examples of the Impact on Our Health
Here are some specific examples of how NGS is being used to improve human health, like for example precision medicine:
- NGS is being used to develop new diagnostic tests for genetic diseases. For example, NGS is being used to develop tests for cancer, autism, and other genetic disorders.
- NGS is being used to develop new personalized treatments for cancer. For example, NGS can be used to identify the genetic mutations that are driving a patient’s cancer, and then target those mutations with specific drugs.
- NGS is being used to study the human microbiome and to develop new ways to treat diseases. For example, NGS is being used to study the role of the gut microbiome in inflammatory bowel disease and to develop new treatments for this disease.
Overall, we can clearly say that NGS is a powerful technology that is transforming biomedical research and improving human health.
