'Working Draft' of Human Genome Announced at White House
On June 26, the Human Genome Project public consortium, led by Dr. Francis Collins, director of the National Human Genome Research Institute, marked its place in history and announced that it had achieved a "working draft" of the DNA sequence of the human genome the genetic blueprint for a human being.
Already, many tens of thousands of genes have been identified from the genome sequence. The sequence information has been continuously, immediately and freely released to the world on GenBank (http://www.ncbi.nlm.nih.gov/genome/seq/), maintained by the National Center for Biotechnology Information of the National Library of Medicine. There are no restrictions on its use or redistribution.
The HGP announcement was launched with a historic White House event involving President Bill Clinton and, via videolink, British Prime Minister Tony Blair. President Clinton congratulated Collins and Dr. Craig Venter of Celera, a private-sector genome company, for their efforts that will "lead to a new era of molecular medicine, an era that will bring new ways to prevent, diagnose, treat and cure disease." The President pledged to continue and accelerate the United States' commitment to helping translate this blueprint into novel healthcare strategies and therapies, and said that "it is now conceivable that our children's children will know the term cancer only as a constellation of stars."
This major milestone involved two tasks: placing large fragments of DNA in the proper order to cover all of the human chromosomes, and determining the DNA sequence of these fragments. The assembly reported overlapping fragments covering 97 percent of the human genome, of which sequence had already been assembled for approximately 85 percent of the genome.
By the time of the White House announcement, the 16 institutions in the consortium had produced far more sequence data than expected (over 22.1 billion bases of raw sequence data, comprising overlapping fragments totaling 3.9 billion bases and providing 7-fold sequence coverage of the human genome). Production of genome sequence skyrocketed over the past year, with more than 60 percent of the sequence produced in the past 6 months alone. During this time, the consortium has been producing 1,000 bases a second of raw sequence 7 days a week, 24 hours a day.
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