14 March 2008
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Foster City, CA. (OBBeC) – Using its new SOLiD System next generation platform, scientists from Applied Biosystems have sequenced a human genome at a costs of of less than $60,000. The company claims that the $60,000 was the commercial price for all required reagents needed to complete the project.
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. Using the SOLiD System the team were able 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.
“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.”
Applied Biosystems is making the information from the study available to the worldwide scientific community through a public database hosted by the National Center for Biotechnology Information (NCBI).
The availability of this sequence data in the public domain is expected to help scientists gain a greater understanding of human genetic variation and potentially help them to explain differences in individual susceptibility and response to treatment for disease, which is the goal of personalized medicine. Although most human genetic information is the same in all people, researchers are generally more interested in studying the small percentage of genetic material that varies among individuals. They seek to characterize that variation as either single-base changes, or as a series of larger stretches of sequence variation known as structural variants. Structural variants comprise fragments of DNA – which include insertions, deletions, inversions, and translocations of DNA sequences ranging from a few to millions of base pairs that have a higher potential of impacting genes and thus contributing to human disease.
The DNA was that of an anonymous African male of the Yoruba people of Ibadan, Nigeria, who participated in the International HapMap Project. The scientists were able to perform an in-depth analysis of structural variants by creating multiple paired-end libraries of genomic sequence that included a wide range of insert sizes. Most inserts exceeded 1,000 bases.
