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NHGRI: A Final Human-Genome Paper Will Appear

SAN FRANCISCO, Aug. 2 - A final blowout paper analyzing the finished draft of the human-genome sequence will appear in a journal, said the National Human Genome Research Institute, reversing its previous assertion that no such paper would be written.


The paper will not be published in April 2003, at the announcement of the final draft, but will most likely appear toward the end of next year, according to Larry Thompson, communications director at NHGRI.


"The goal is to have a final analysis-type of paper" that asks "'What have we learned?'" since the first draft was published in Nature in February 2001, said Thompson.


The NHGRI had previously said the only published document that would coincide with the final sequence draft would be 24 individually written articles based on each of the 24 chromosomes, including the X and Y.


Instead, the NHGRI said "the ... final paper will be the final paper" and will appear after all 24 separate chromosome articles have been printed, said Thompson. Three of those papers, for chromosomes 20, 21, and 22, are already published, he said, adding that the remaining chromosomes are slated to appear through the end of 2003.


It is possible, however, that the whole-genome analysis paper may end up in print prior to some of the last chromosome papers, which are being written by the centers responsible for sequencing them, said Thompson.


While a journal has yet to be selected for the final analysis paper, it will appear in a journal like Nature or Science, said Thompson.


The final article will be wholly distinct from a so-called strategy paper designed to be a "vision plan for the future of genomics research," according to Thompson. That paper, slated for publication in April, was first reported by GenomeWeb on Wednesday.


The strategy paper will bring together the results of workshops held between December 2001 and November 2002 in which genomic researchers discussed the "strategies and technologies to make an impact on improving human health," said Thompson. The strategy plan will be reviewed for final approval during the NHGRI's National Advisory Council for Human Genome Research meeting in February 2003.


That a final analysis paper is planned, in addition to papers on specific chromosomes and future strategies, comes as welcome news to some scientists, many of whom were surprised initially to learn that the NHGRI planned not to publish a one big blow-out article.


"What's the most interesting publication you could possibly have?" posited Chad Nusbaum, co-director of genome sequencing and analysis at the Whitehead Institute/MIT Center for Genome Research. "Something global.


"All these chromosome papers are of passing interest," he went on. "Those papers are historical artifacts, flags on the tops of mountains. To me, much more illuminating is a global-wide view of the whole genome, ... a paper representing a scientific moment to take a look at the genome: 'Here's a genome, here's what's in it,' ...[and] what are the transforming principles that can be uncovered here."

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