FOSTER CITY, Calif. -- Applied Biosystems (NYSE:ABI), an Applera Corporation business, today announced a significant development in the quest to lower the cost of DNA sequencing. Scientists from the company have sequenced a human genome using its next-generation genetic analysis platform. The sequence data generated by this project reveal numerous previously unknown and potentially medically significant genetic variations. It also provides a high-resolution, whole-genome view of the structural variants in a human genome, making it one of the most in-depth analyses of any human genome sequence. Applied Biosystems is making this information available to the worldwide scientific community through a public database hosted by the National Center for Biotechnology Information (NCBI).
Does anyone reading this know (or have a way to find out) how many days or weeks this sequencing took to do?
Applied Biosystems was able to analyze the human genome sequence for a cost of less than $60,000, which is the commercial price for all required reagents needed to complete the project. This is a fraction of the cost of any previously released human genome data, including the approximately $300 million1 spent on the Human Genome Project. The cost of the Applied Biosystems sequencing project is less than the $100,000 milestone set forth by the industry for the new generation of DNA sequencing technologies, which are beginning to gain wider adoption by the scientific community.
The earliest automated DNA sequencing machine developed at CalTech (using a mass spectrometer design developed for a Mars mission) required a full time lab technician to purify the existing highest quality reagents to an even higher purity that the sequencing machine needed.
These scientists did multiple sequencings of the same genome which is needed in order to get good accuracy.
Under the direction of Kevin McKernan, Applied Biosystems' senior director of scientific operations, the scientists resequenced a human DNA sample that was included in the International HapMap Project. The team used the company's SOLiD System to generate 36 gigabases of sequence data in 7 runs of the system, achieving throughput up to 9 gigabases per run, which is the highest throughput reported by any of the providers of DNA sequencing technology.
The 36 gigabases includes DNA sequence data generated from covering the contents of the human genome more than 12 times, which helped the scientists to determine the precise order of DNA bases and to confidently identify the millions of single-base variations (SNPs) present in a human genome. The team also analyzed the areas of the human genome that contain the structural variation between individuals. These regions of structural variation were revealed by greater than 100-fold physical coverage, which shows positions of larger segments of the genome that may vary relative to the human reference genome.
"We believe this project validates the promise of next-generation sequencing technologies, which is to lower the cost and increase the speed and accuracy of analyzing human genomic information," said McKernan. "With each technological milestone, we are moving closer to realizing the promise of personalized medicine."
Before we get to personalized medicine we are going to discover what a huge number of genetic variations do to make us different in mind and body. Our perceptions of what we are as humans will be fundamentally altered. Most notably people will come out on the other side of this wave of discoveries with an altered and reduced view of the power of free will.
|Share |||Randall Parker, 2008 March 14 10:59 PM Biotech Advance Rates|