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Bioinformaticists Help Draft Human Genome Project s Next Five-Year Plan


BETHESDA, Md.--Human Genome Project stakeholders are working now with the US Department of Energy and the National Institutes of Health on the project's next five-year plan. Last month, in one of a series of planning workshops that have taken place during the past year, some 50 government, academic, and industry participants met here to plan the project's new bioinformatics strategies.

DOE's Dan Drell said the meetings have tried to capture users' perspectives. "There are people who can build databases and tools. But when all is said and done, what matters is that users can use the tools to do what they want to with them."

At BioInform press time Drell said it was too early to say how prominent bioinformatics goals would be in the final plan. But he said he expects improvements over the last five-year plan: "In contrast to sequencing and mapping goals, bioinformatics goals were vague in the last plan. If we can tighten them up that will be a service to the project," he said.

Lisa Brooks of the National Human Genome Research Institute at NIH, chair of the bioinformatics planning meetings, said, "Bioinformatics is certainly an important element of the overall plan."

She said stakeholders discussed their priorities "in terms of types of queries that users want to be able to access and the types of data that should be captured." A curated sequence database that can be related to other types of biological information was deemed a top priority. Developing a genetic variation database was also considered important, Brooks said.

"Everybody recognizes that the point of sequencing at some point is to get the sequences into public databases. There's no point in sequencing if you don't get the information out. That's true for more than sequencing, too. It's true for single nucleotide polymorphisms and functional information that we're interested in having biologists and medical researchers be able to use," she said.

"Having an essentially living database that presents sequences that are assembled and curated and that links to map, function, and variation information annotated in different ways would be very useful," Brooks said.

Planning will conclude May 28 and 29 when about 100 people attend an invitation-only Human Genome Project planning "extravaganza" at the Airlie House conference center in Warrenton, Va. Drell said a draft five-year plan will be introduced then that, after some tweaking over the summer, he hopes will be introduced in Science magazine's October Genome Issue.

--Adrienne Burke

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