What Is Next-Generation Sequencing?

Two dimensional chromatography made its first appearance back in the 1970s. Unsurprisingly, the world was infatuated with the concept of DNA sequencing. In 1977 scientists pioneered another revolutionary advancement in the form of capillary electrophoresis (CE) based sequencing. This allowed researchers to accurately sequence the full genome make-up of any species. Just 10 years later global instruments and reagents retailer Applied Biosystems developed the world’s first automated CE based sequencing apparatus that marked a new era of efficiency and complexity for DNA sequencing scientists. The AB370 made its debut in 1987, followed by the AB3730xl in 1998. Both went on to become key tools in the high profile Human Genome Projects led by NIH and Celera.  

The next-generation arrives

At the time both were considered cutting edge instruments however today they have been demoted to ‘first generation’ technology. In 2005 the Genome Analyser sped up sequencing runs from a meagre 84 kilobase per run to a lighting fast 1 gigabase. The ultra-parallel, short read sequencing technique took a wildly different approach to sequencing and completely modernised the capabilities of instruments. Put simply, the ‘next-generation’ of DNA sequencing had arrived in full force!

In the wake of the introduction of the Genome Analyser annual data output of next generation sequencing has more than doubled each year. In fact, last year a single sequence run was able to produce 1.8 terabases of data, which represents a 1000x increase on 2005’s rate. This blows Moore’s law out the water!

A new ear of cost-efficiency

As well as speeding up sequencing run rates technological advancements have slashed the costs of human genome science. In 2001 Science and Nature sequenced the world’s first human genome at a cost of almost $3 billion and 15 years of research. Today, next-generation instruments such as the HiSeqX Ten are capable of sequencing over 45 human genomes for $45,000 in just one day.

This has allowed scientists to reimagine the conventions of DNA sequencing technology. For the world, this enables population-scale sequencing and the emergence of personalised genomic medicine. Eric Lander, leader at the Human Genome Project explains, “The rate of progress is stunning… As costs continue to come down, we are entering a period where we are going to be able to get the complete catalogue of disease genes. This will allow us to look at thousands of people and see the differences among them, to discover critical genes that cause cancer, autism, heart disease or schizophrenia.”

Next-generation sequencing has categorically allowed scientists to study biological systems in a way that’s never before been possible. Although, it’s not without its challenges. ‘Uniformity Across the Block’ looks at the costs of failed runs, and how instruments such as the Eco 48 real time PCR system can help laboratories achieve exceptional uniformity.