Briefs

Apr 15, 2003. The Scientist reports that the "Final" version includes 99% of gene-containing DNA � variation between individuals is next challenge.

It's not completely complete, and perhaps never will be. But the version of the human genome sequence that opened for business yesterday (April 14) at the University of California-Santa Cruz is so accurate that scientists will be consulting it for the next several centuries, Francis Collins, who heads the US National Human Genome Research Institute (NHGRI), told The Scientist.

"You can think of this as the end of the high-throughput phase of human sequencing. The fact that it's yielded up 99% of the gene-containing DNA at this level of accuracy means that almost everybody who is looking for answers from the genome will find it in the most final form that they ever could have dreamed of," Collins said.

Robert Waterston, who heads the Genome Sequencing Center at Washington University in St. Louis, recalled the original announcement that a working draft of the genome was complete, a huge media event orchestrated by the White House in June 2000. The final 10% has been the biggest challenge, he said, but in the past three years, researchers have closed 99.5% of the gaps in the working draft, he said. The error rate is down to 1 per 100,000 bases, and we now have the full sequence of almost every gene. "Press conferences may come and go, but the sequence will remain," he said.

At a symposium at NIH, Francis Collins called it a "milestone sort of a day": "Welcome," Collins said to everyone, "to the genome era."

See http://www.biomedcentral.com/news/20030415/03