Project Will Map Genomes of 1,000 People Worldwide

TUESDAY, Jan. 22 (HealthDay News) -- The genomes of 1,000 people worldwide will be mapped in what scientists are calling the most detailed and medically relevant look at human genetic variation ever conducted.

As outlined by an international team of researchers on Tuesday, the 1000 Genomes Project will receive major support from the U.S. National Human Genome Research Institute (NHGRI), the Wellcome Trust Sanger Institute in England, and the Beijing Genomics Institute in China.

"The 1000 Genomes Project will examine the human genome at a level of detail that no one has done before," consortium co-chair Richard Durbin, of the Wellcome Trust Sanger Institute, said in a prepared statement.

Data from the project will be made available to the worldwide scientific community through public databases. The people who have their genomes sequenced will remain anonymous and will not have to provide any personal medical information.

Among the populations whose DNA will be sequenced in this effort are: Yoruba in Ibadan, Nigeria; Japanese in Tokyo; Chinese in Beijing; Utah residents with ancestry from northern and western Europe; Luhya in Webuye, Kenya; Maasai in Kinyawa, Kenya; Toscani in Italy; Gujarati Indians in Houston; Chinese in metropolitan Denver; people of Mexican ancestry in Los Angeles; and people of African ancestry in the southwestern United States.

"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," Durbin said. "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."

All humans are more than 99 percent genetically identical. However, understanding the small fraction of genetic variation among humans can help explain individual differences in disease susceptibility, response to drugs, or reaction to environmental factors.

Previous research has identified more than 100 regions of the human genome that contain genetic variants associated with the risk of common diseases such as diabetes, coronary artery disease, prostate and breast cancer, rheumatoid arthritis, inflammatory bowel disease, and age-related macular degeneration.

However, existing genome maps are not extremely detailed, which means that researchers often have to use expensive and time-consuming DNA sequencing to help them identify precise genetic variants that cause a disease.

The new genetic map created by the 1000 Genomes Project will help scientists more quickly pinpoint disease-related genetic variants and advance efforts to use genetic information to develop new ways to diagnose, treat and prevent genetic-related 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," NHGRI director Dr. Francis S. Collins said in a prepared statement.

"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," Collins said.

More information

Find out more at 1000 genomes.

SOURCE: U.S. National Human Genome Research Institute, news release, Jan. 22, 2008

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