$50M Sequence Project to Map Genomes in 1,000 People

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$50M Sequence Project to Map Genomes in 1,000 People

By Nuala Moran

BioWorld International Correspondent

LONDON - The industry is promised a new treasure trove of targets by

the latest sequencing effort, the $50 million 1000 Genomes Project,

launched last week by an international public sector consortium.

The project will draw on sequence data from at least 1,000 people

from around the world to create the most detailed, and it is hoped,

medically relevant picture of human genetic variation relating to

common diseases and responses to drugs. It is driven by the recent

successes of genomewide association studies in finding genes for

diseases such as Type I diabetes and Crohn's disease, and uncovering

genetic links between disorders such as obesity and three genes

involved in Type II diabetes.

The three-year project will make its findings available free through

public databases. The major funders are the Wellcome Trust Sanger

Institute in Cambridge, UK, the U.S. National Institutes of Health's

National Human Genome Research Institute (NHGRI) and the Beijing

Genomics Institute in China.

A dramatic fall in the cost of sequencing and accompanying advances

in bioinformatics have made the 1000 Genomes Project possible. It

builds, of course, on the Human Genome Project, and on other recent

studies of human genetic variation, such as HapMap, the international

effort to plot all human variation, and the Wellcome Trust's Case

Control Consortium's genome association studies.

But those look like paltry efforts compared to the scale of the 1000

Genomes Project, which will sequence 6 trillion DNA bases, generating

60 times more data over three years than have been deposited into

public DNA databases over the past 25 years.

" When up and running at full speed, this project will generate more

sequence data in two days than was added to public databases for all

the past year, " said Gil McVean of Oxford University, one of the co-

chairs of the project.

HapMap, the Case Control Consortium and similar programs have

pinpointed more than 100 regions of the genome containing variants

associated with diseases including diabetes, cardiovascular disease

and inflammatory bowel disease. But to find the precise variants, it

still is necessary to do time-consuming DNA sequencing.

The 1000 Genomes Project will enable researchers to zoom in on

disease-related polymorphisms far more quickly.

The overall goal is to produce a catalog of variants that are present

at 1 percent or greater frequency across the genome, down to 0.5

percent within genes.

The 1,000 people who contribute their DNA will be anonymous. There

will be no accompanying medical information, since the aim is to

produce a map of genetic variants.

Francis , director of NHGRI, said that once the work is

complete, it will increase the ability to find genetic variants

underpinning disease by five times across the genome and tenfold

within gene regions. " Our existing databases do a reasonably good job

of cataloguing variation found in at least 10 percent of a

population. . . . We hope to give biomedical researchers a genome-

wide map down to the 1 percent level. "

Currently, rare gene variants that have a severe effect, such as

Huntington's disease, are tracked down through family studies, while

genomewide association studies can pick up the common variants that

are related to common diseases. But between the rare and the common

sits a broad range of diseases, which it is hoped will be covered by

the 1000 Genomes Project.

In addition to covering all single nucleotide polymorphisms, the

project will map structural variants that are now thought to be

implicated in mental retardation and autism.

Published January 30, 2008