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Next generation sequencer (2014)

Next generation sequencer

The human genome took more than 15 years to sequence first time around at a cost of about $3 billion dollars. Now a single, next-generation sequencing machine can sequence more than 45 human genomes in a day at a cost of less than $1,000 per sequence. The age of personalised medicine, based on your genetic type, is upon us and the implications for immunology are immense thanks to the generation of this invaluable genetic resource.

Instead of base-by-base sequencing in the so-called Sanger method, the next generation sequencing machines carry out the process by sequencing many fragments of the same genome in parallel. Once the overlapping fragments are fully sequenced, computer algorithms are used to stick the information together into a coherent genome.

Experiments with massively parallel sequencing began in the 1990s, as part of the Human Genome Project, and in 2000, Lynx Therapeutics came up with the first “next generation” sequencing, known as massively parallel signature sequencing (MPSS) based on the principle of ultra-high throughput sequencing.  Lynx was eventually incorporated into Solexa, which was then acquired by Illumina, now the leader in the field of next generation sequencing.

The increases in data generated by next generation sequencing machines reflects the how rapidly the technology is advancing. In 2005, for instance, an Illumina Genome Analyzer could produce about one gigabase of data in a single run. By 2014, the rate had climbed to 1.8 terabases in a single sequencing run – a 1000-fold increase in performance. With increases in the flow of genomic data, and lower costs per DNA base, immunologists are expected to learn a lot more about the genetic variants behind a host of immune-related illnesses.