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DOE Joint Human Genome Effort Exceeds Sequencing Goal

essfully sequenced over 20 million base pairs. Thanks to improved technologies, some developed by JGI researchers, and streamlining techniques, the JGI has been able to reach rates of over 2.5 million base pairs per month. According to Branscomb, the JGI's sequencing goal for 1999 is 70 million high-quality bases -- 30 million finished bases and 40 million "draft" bases.

"This represents only the first step in our aggressive plan for production ramp-up. We are seeking to break the 100-million-base-pair barrier in the year 2000," he said. Thus far, the international human genome sequencing effort has cracked only about 7 percent of the genome's three billion letters, or 195 million bases.

To explore the genetic landscape, researchers construct "maps" by probing for particular biological landmarks along the topography of the human chromosomes. These low-resolution maps capture features along vast stretches of DNA, from thousands to millions of individual units. To reveal the details along the way, the methodical process of sequencing is employed, which photochemically reads the identity and exact order, or sequence, of the four letters that make up the alphabet of DNA.

Of the 23 pairs of human chromosomes, the JGI's sequencing enterprise targets chromosomes 5, 16, and 19, regions of the human genetic library that have already yielded genes involved in diabetes, atherosclerosis, asthma, schizophrenia, and Batten disease (a fatal, inherited disease of the nervous system that begins in childhood).

An accelerated 5-year plan for the U.S. Human Genome Program (the combined DOE and National Institutes of Health efforts) was published today in the journal Science. The new plan calls for the completion of the first high-quality set of human genome sequences by 2003, two years ahead of the original schedule.

Branscomb anticipates that the Joint Genome Institute will begin moving into its new Walnut Creek (CA) operations center, the Production Sequencing
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Contact: David Gilbert
degilbert@lbl.gov
510-486-6096
DOE/Lawrence Berkeley National Laboratory
23-Oct-1998


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