Next-generation sequencing (NGS) encompasses a set of innovative technologies that broke the paradigm by addressing biological issues on a scale involving complete genomes.

In the last decades, these technologies have been widespread, resulting in a constant increase in the number of sequences, given the decrease in the time needed and the overall cost of sequencing.

From these advances, there is a significant social benefit, as the information collected from personal and population genomic analyzes is gradually incorporated into the therapeutic and preventive guidelines in modern health systems.

Since 2005, several NGS platforms have been developed, based mainly on the methodologies of:

• Pyrosequencing by detection of pyrophosphate (Roche 454);

• Sequencing by ligation (SOLiD);

• Semiconductor sequencing technology (Ion Torrent);

• Sequencing by synthesis (Illumina);

• Single molecule sequencing (Pacific Biosciences and Oxford Nanopore).

Most of these technologies are still under development and are constantly improving.

NGS methodologies have the great advantage of providing direct and parallel sequencing of millions to billions of DNA molecules, considerably increasing the scale and resolution of the analyzes. For all these reasons, the NGS is increasingly present in our daily lives, revolutionizing biological research in areas such as genetics, genomics, biotechnology, medicine and Bioinformatics.

Reference:

-Kanterakis et al., 2018. An Introduction to Tools, Databases, and Practical Guidelines for NGS Data Analysis. Human Genome Informatics, Academic Press, pp. 61-89.

-Koboldt et al., 2013. The next-generation sequencing revolution and its impact on genomics. Cell, 155(1), 27–38.

-Neoprospecta - Microbiomes Technologies. Available in: https://blog.neoprospecta.com/sequenciamento-de-nova-geracao-ngs/. Access in: 10/06/2020.

What do you know about Bioinformatics?

Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex. As an interdisciplinary field of science, Bioinformatics combines biology, computer science, information engineering, mathematics and statistics to analyze and interpret the biological data. Bioinformatics has been used for in silico analysis of biological queries using mathematical and statistical techniques.

How is this tool used?

Bioinformatics includes biological studies that use computer programming as part of their methodology, as well as a specific analysis pipelines; that are repeatedly used, particularly in the field of genomics. Common uses of Bioinformatics include the identification of candidate genes and single nucleotide polymorphisms (SNPs). Often, such identification is made with the aim of better understanding the genetic basis of disease, unique adaptations, desirable properties (especially in agricultural species), or differences between populations. In a less formal way, Bioinformatics also tries to understand the organizational principles within nucleic acid and protein sequences, called proteomics.

The aim of the Human Genome Project (HGP) was the detailed development of the physical and genetic map of the human genome, i.e. its mapping (place of the genes in the DNA) and sequencing (order of bases), respectively, deciphering all 3.1 billion biochemical “letters” or base pairs. It remains the world’s largest collaborative biological project.

The sequencing of the human genome holds benefits for many fields, from molecular medicine to human evolution. The HGP, through its sequencing of the DNA, can help us understand diseases, including: genotyping of specific viruses to direct proper treatment; identification of mutations linked to different forms of cancer; the design of medication and more accurate prediction of their effects; advancement in forensic applied sciences; biofuels and other energy applications; agriculture, animal husbandry, bioprocessing; risk assessment; bioarcheology, anthropology and evolution.

Since that time, the cost of performing genetic and genomic testing has declined significantly, with a per-genome cost of slightly less than $1,000 in 2019 compared with per-genome costs of about $95 million and $30,000 in 2001 and 2010, respectively. This significant cost reduction, which has been associated with the development of next-generation sequencing (NGS) platforms and leaps in computer hardware development, among other things, has opened the door for patients to more readily access these important resources.

The NGS, first launched in 2005, generated short sequences (35-500 bp) by immobilizing millions of amplified DNA fragments onto a solid surface and then performing the sequencing reaction. Over the last few years, NGS has been developed into a valuable tool for research applications and it shows tremendous potential in clinical genetic diagnostics. NGS represents an entirely new principle of sequencing technology following Sanger sequencing, which was first described in 1977. The HGP (~USD 3 billion), the cost of sequencing a single genome has decreased to USD 1,000, using available technologies. Owing to the ongoing innovation in this field, stakeholders believe that the cost may get further reduced to USD 100 over the next decade. The NGS market is projected to reach USD 24.4 billion by 2025 from USD 7.8 billion in 2019.