Friday, June 1, 2012

1,000 Genomes Project -World's Most Detailed Map of the Human Genome

January 23, 2008         Posted by Casey Kazan.

Shutterstock_8619007To date, only a handful of humans have had their genes analysed in this way, including scientists Craig Venter and James Watson, and anonymous volunteers.

Teams in the UK, US and China say the 1,000 Genomes Project will create the most useful map ever of genetic variation. The project Will read 6 trillion DNA building blocks
including populations from Africa, Asia, USA and Europe.

Any two humans are genetically more than 99% identical: variations can explain why some get certain diseases.

“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.”"The dream of people working in the field would be to have a picture of all the places in our DNA sequence where there are differences between people, and how these fit together when they are inherited," Dr Richard Durbin of the Wellcome Trust Sanger Institute, told BBC News. "We can do 100 times as much sequence today as before for the same amount of money," he explained.
Genome-wide association studies search for variations that influence health by comparing thousands of people people who have a certain disease with a similar number of healthy controls. Scientists then look at 500,000 genetic markers to determine which are much more common among people with the disorder under investigation.
These markers, however, are not always part of the genes that cause health effects, but rather highlight sections of DNA in which such genes might lie. As a result, extensive follow-up studies are often needed to locate the precise gene that is involved.
The 1,000 Genomes Project will provide a tool to greatly shorten this process by locating all the genes that have variants that are reasonably common. This means that when a marker suggests that a particular part of the genome is linked to a disease, scientists can immediately consult a catalog of all the genetic variants in that segment. They can then investigate these variants more fully to determine which, if any, make a direct contribution to the disease at hand.
During its two-year production phase, the project will read the equivalent of more than two human genomes every 24 hours. The volume of data - and the interpretation of those data - will pose a major challenge.
"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," says Dr Gil McVean, of the University of Oxford, one of the co-chairs of the consortium's analysis group.


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