Monday, May 08, 2000

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The private company Doubletwist is a relative newcomer in the genome race and claim to have obtained the first "working draft" of the entire human genome.

They say they did this by analysing publicly-available data using Sun workstation computers. The human genetic blueprint."

Wired Dot-Comming the Genome Race
""DoubleTwist and Sun have dot-commed the human genome," said Steve McKay, vice president of architecture and technology at Sun.

DoubleTwist, however, does not plan to patent any genes. Its intentions are strictly to provide tools to help the research community make discoveries sooner by using its Internet tools, according to company CEO John Couch. "

"In order to do this, DoubleTwist has skipped the sequencing phase of the Genome. HGP is already doing the sequencing and providing that information for free to researchers. Instead, DoubleTwist will provide the sequencing annotation -- the phase that begins to identify what human functions and diseases particular genes are associated with."

"DoubleTwist's initial analysis located about 6,500 genes, and reaffirmed the theory that there are about 100,000 genes in the human genome. But the company's director of research Nick Tsinoremas emphasized that locating genes is not DoubleTwist's main goal.

"We're not here today to make a scientific statement of how many genes there are; We're here to say we have achieved a major milestone," Tsinoremas said."

SF Gate New Player In Race to Track Genome DoubleTwist.com says it has partial draft
"We've been doing a very quantitative analysis, and the public database is missing about 25 percent of the genome that's in our sequences,'' [Celera's CEO] Venter said. ``Any list of genes produced from it would be incomplete at best.''

Indeed, DoubleTwist's chief computer scientist, Nick Tsinoremas was reluctant to issue any gene count, knowing that subsequent computer analyses will change the number, purpose and location of many genes."

"Tsinoremas said 65,000 of the genes in DoubleTwist's rough draft passed through three sets of software programs designed to identify genes. He assigned these genes a 90 percent probability of accuracy. The other 40,000 genes only passed one or two sets of tests, giving them accuracy rates of 50 percent or 75 percent, respectively."

LA Times An Unfolding Gene Map at 'Finish Line'
"The mapping of the human genome is one of the most significant and widely trumpeted achievements in modern science. The research it enables promises new treatments for disease, new drugs to promote healthy growth and delay aging, and new ways to detect disorders early while there is still time to do something about them."

"Yet many of the participants on the public side say that it isn't the time to shoot off fireworks in celebration. This is a meaningful milestone that has come much faster than expected, they say, but the work is far from done. "

"Everyone agrees that deciphering the human genome, even in a working-draft stage, has opened up new worlds to explore, even if the health gains that are promised will not come immediately. It will take years of research to understand how human genes interact, and it can take eight to 10 years to bring any new medications to market."

The British Medical Journal Waiting for the working draft from the human genome project
"However, while the draft will be valuable for identifying gene and polymorphism, the relaxed error rate means that much work will be needed before the most basic sequence information can be put to practical use. For example, novel cytochrome P450 enzymes involved in drug metabolism are likely to emerge in the working draft, giving new targets for pharmacogenetics research. However, the new genes will need to be verified first, so that accurate assays can be developed to assess the genotype composition of patients with specific disorders or undergoing trials of different treatments. The working draft provides a framework but remains just a map, one that is still too crude for clinical use. As with any map, its utility lies in specific applications to specific circumstances. For the human genome project, this specificity requires application at the level of the patient or research participant, rather than the abstract level of consensus. While not wanting to begrudge a historic scientific achievement, it is best to acknowledge that we will have to wait for more than the working draft to see a real impact on medicine."