January 23, 2008
1000 Genomes Project To Accelerate Genetic Discoveries

Remember when sequencing the DNA of just a single person was a great achievement? Now an international project will sequence 1000 times as many human genomes.

An international research consortium today announced the 1000 Genomes Project, an ambitious effort that will involve sequencing the genomes of at least a thousand people from around the world to create the most detailed and medically useful picture to date of human genetic variation. The project will receive major support from the Wellcome Trust Sanger Institute in Hinxton, England, the Beijing Genomics Institute, Shenzhen (BGI Shenzhen) in China and the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH).

Drawing on the expertise of multidisciplinary research teams, the 1000 Genomes Project will develop a new map of the human genome that will provide a view of biomedically relevant DNA variations at a resolution unmatched by current resources. As with other major human genome reference projects, data from the 1000 Genomes Project will be made swiftly available to the worldwide scientific community through freely accessible public databases.

“The 1000 Genomes Project will examine the human genome at a level of detail that no one has done before,” said Richard Durbin, Ph.D., of the Wellcome Trust Sanger Institute, who is co-chair of the consortium. “Such a project would have been unthinkable only two years ago. Today, thanks to amazing strides in sequencing technology, bioinformatics and population genomics, it is now within our grasp. So we are moving forward to build a tool that will greatly expand and further accelerate efforts to find more of the genetic factors involved in human health and disease.”

Scientists think they've found the genetic variations which are carried by at least 10% of the human population. Now they want to look for rarer variations that are carried by as few as 1% of the population.

The scientific goals of the 1000 Genomes Project are to produce a catalog of variants that are present at 1 percent or greater frequency in the human population across most of the genome, and down to 0.5 percent or lower within genes. This will likely entail sequencing the genomes of at least 1,000 people. These people will be anonymous and will not have any medical information collected on them, because the project is developing a basic resource to provide information on genetic variation. The catalog that is developed will be used by researchers in many future studies of people with particular diseases.

“This new project will increase the sensitivity of disease discovery efforts across the genome five-fold and within gene regions at least 10-fold,” said NHGRI Director Francis S. Collins, M.D., Ph.D. “Our existing databases do a reasonably good job of cataloging variations found in at least 10 percent of a population. By harnessing the power of new sequencing technologies and novel computational methods, we hope to give biomedical researchers a genome-wide map of variation down to the 1 percent level. This will change the way we carry out studies of genetic disease.”

Within a few years this project will be collecting more sequence information in 2 days than was collected in all of last year.

“This project will examine the human genome in a detail that has never been attempted – the scale is immense. At 6 trillion DNA bases, the 1000 Genomes Project will generate 60-fold more sequence data over its three-year course than have been deposited into public DNA databases over the past 25 years,” said Gil McVean, Ph.D., of the University of Oxford in England, one of the co-chairs of the consortium’s analysis group. “In fact, when up and running at full speed, this project will generate more sequence in two days than was added to public databases for all of the past year.”

The acceleration of DNA sequencing technologies is going forward much faster than the Moore's Law rate of advance of computer power which takes a couple of years to achieve a single doubling of power. DNA sequencing technologies are speeding up by orders of magnitude in a few years.

The 1000 Genomes Project will probably be followed by the Million Genomes Project to find very rare genetic variations. Plus, at the same time we are witnessing a flood of discoveries about what each of the genetic variations mean in terms of disease risk and about which genetic variations cause which differences between people. We are getting very close to the discovery of large numbers of genetic variations that determine cognitive abilities and behavioral tendencies. Within 10 years embryo selection guided by genetic testing will become the rage among those who want to have the highest performing offspring.

Share |      Randall Parker, 2008 January 23 09:28 PM  Biotech Advance Rates

Daniel MacArthur said at January 23, 2008 11:00 PM:

Except the project won't actually be sequencing 1,000 complete genomes - they'll be sequencing less than 200 (most of these with very low coverage), and then sequencing a small fraction of the genome (less than 1%) in a further 1,000-2,000 people. It's still a fantastic project, but it's not quite as impressive as its title makes out.

See details on the project here and my scathing (well, lukewarm) attack on Nature's news coverage here.

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