Thursday, October 29, 2009

genomics richard stallman?

The Scientist | In the future, Hubbard says that gene-prediction programs need to get good enough that they can find genes without the aid of experimental data or comparative genome analyses to guide them. “Because that’s cheating,” he says. “For example, an RNA polymerase does not go and look at the mouse genome when it’s working out whether to transcribe a particular stretch of human sequence. But that’s what many of our algorithms do now.” Instead, he says that annotation programs should take an RNA polymerase–eye-view of the sequence, modeling the biology closely enough to accurately locate and assess the activity of genes. As we move into an era of personal genomics, such an approach will be necessary for predicting the effect that a certain SNP variant might have on gene function. He and his team have had some early success, producing a transcription start-site predictor that nails about half the genes in a genome sequence with very few false positives.

Hubbard also spends quite a bit of time working on issues of open access and the economics of innovation. “Governments are spending all this money for research and then not maximizing its value because they’re not investing enough in making sure people can access and reuse that data,” says Hubbard, who has discussed these issues at meetings of the Organisation for Economic Cooperation and Development (OECD) and the World Health Organization. Much of this work he does in his spare time. “Other people go fishing,” laughs Birney. “Tim likes to reform international patent law and go to UN conferences to discuss how open-access agreements should be arranged to maximize the way science gets translated into meaningful outcomes.”

Those outcomes, of course, include potential improvements in the diagnosis and treatment of disease, which makes the issue more urgent and more fraught. “If you look at the health implications of all the work being done in genomics, the opportunities are tremendous and the obstacles are staggering—and a lot of those are political,” says Haussler. “I just have the ultimate respect for Tim, as he’s willing to move through those political hurdles and try to get things to happen.”

“In a way, Tim’s contribution to the scientific endeavor is a very interesting one and rather different from most scientists,” says EBI director Janet Thornton. “Although he’s had a hand in producing many of the big genome publications, his unique input lies in his broad perspective, his sense of fairness, and his openness to new ideas. His diplomatic efforts have really been fundamental in making these large-scale, collaborative genomics projects work—and in making the data available so that the science can be put to good use for biology and medicine around the world.”

“A lot of things can be done by one person with a computer,” adds Flicek. “If the Internet age taught us anything, it’s taught us that.”