Seven research projects to spell out the human genetic instruction book have been extended for a third year to further refine strategies for completing the DNA sequence of the human. In the process, the group aims to spell out some 117 million of the 3 billion DNA "letters," or bases, that make up the human sequence and deposit the information in public databases. That will raise the amount of human DNA sequence contributed by the federally funded Human Genome Project (HGP) to over 184 million bases [67Mb current 117Mb].
The National Human Genome Research Institute (NHGRI), the component of the National Institutes of Health (NIH) that leads the HGP, will award the seven projects a total of $60.5 million over the next year beginning today.
The sequencing projects began two years ago to pilot test new ways to apply sequencing strategies to the large and complex human genome. At that time, only much smaller genomes of micro-organisms had been sequenced. In experiments to scale-up those methods, scientists were learning better ways to manage rapid data production efforts, the capacity of automated sequencing instruments had increased, and newer, higher-throughput sequencing instruments were ready to be applied to large-scale sequencing projects.
Still, there were many lessons to learn. What kind of genome "map" was best to start from, for example? Would existing maps suffice, or would sequencers have to modify the maps specifically for sequencing? How would all the repeated sequences affect assembling the data? And finally, how much would it cost?
To answer those questions, pilot project investigators have for the past two years been testing strategies that span the entire large-scale sequencing process, from up-front preparation of sequence maps through assembly and analysis of the data. Such strategies aim to lead to full-scale production sequencing of human DNA to carry out the Human Genome Project's ultimate goal: the complete, accurate, finished sequence of human DNA by the year 2005. Last spring, progress of pilot projects was assessed and decisions to award a third year of funding were based on several factors, including: exportability of the strategies and technologies; plans for incorporating new technologies; likelihood that the pilot project will scale to a successful system for sequencing the entire human genome; quality of the management plan; demonstrated success in increasing throughput, decreasing cost, and maintaining accuracy in DNA sequencing; and timeliness with which data have been placed in the public domain.
The following investigators received third-year funding:
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Last Reviewed: March 2007