The term next generation sequencing (NGS) is really a misnomer. NGS implies a single methodology, but the fact is that over the past 10 to 15 years there have been multiple generations and the end is nowhere in sight. Technological advances in the Life Sciences field are continuing to emerge at a record setting pace.
Early sequencing efforts used a methodology known as Sanger chemistry, which employs specifically labeled nucleotides to read through a DNA template during DNA synthesis. Despite technical innovations, after 25 years the Sanger method had reached the limits of its capability to handle large genomic datasets.
NGS, an important new approach to sequencing, removed these roadblocks. The technology achieved a major milestone in 2000 when Craig Venter, founder of Celera Genomics, and Francis Collins of the National Institute of Health and the U.S. Public Genome Project used the newly developed NGS technology to accomplish the complete mapping of the human genome some three years ahead of the expected timeline set by the Public Genome Program. The NGS solution they employed, known as shotgun sequencing, uses chemical and mechanical methods that allow researchers to sequence DNA and RNA more quickly and cheaply than the Sanger method. Because the speed of sequencing has been ramped by many orders of magnitude, scientists can now sequence vast amounts of data.
One of the results is that today’s NGS workflows are more computer science than life sciences. It is now possible to do a complete human genome—about three billion nucleotides — in a few days for around one thousand dollars. Fifteen years ago this would have been a billion dollar project that took multiple man-years of effort.
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