pinpoint the precise causative variants. The new map would enable researchers to more quickly zero in on disease-related genetic variants, speeding efforts to use genetic information to develop new strategies for diagnosing, treating and preventing common diseases 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 give biomedical researchers a genome-wide map of variation down to the 1 perce o power of new sequencing technologies and novel computational methods, we hope level. This will change the way we carry out studies of genetic disease With current approaches, researchers can search for two types of genetic variants related to disease. The first type is very rare genetic variants that have a severe effect, such as the variants responsible for h tynioaug cystic fibrosis and Huntingtons disease To find these rare variants, which ty pically affect fewer than one in 1,000 people, researchers often must spend years on studies involving affected families. However, most common diseases, such as diabetes and heart disease, are influenced by more common genetic variants. Most of these common variants have weak effects, perhaps increasing risk of a common condition by 25 percent or less. Recently, using a new approach known as a genome-wide association study researchers have been able to search for these common variants Between these two types of genetic variants- very rare and fairly common-we have a significant gap in our knowledge. The 1000 Genomes Project is designed to fil that gap, which we anticipate will contain many important variants that are relevant to human health and disease."" said David altshuler m. d ph d of massachusetts General Hospital in Boston and the broad Institute of Massachusetts Institute of Technology(MIT)and Harvard University in Cambridge, Mass, who is the consortiums co-chair and was a leader of the HapMap Consortium One use of the new catalog will be to follow up genome-wide association studies Investigators who find that a part of the genome is associated with a disease will be able to look it up in the catalog, and find almost all variants in that region. They will then be able to conduct functional studies to see whether any of the catalogued variants directly contribute to the disease The 1000 Genomes Project builds on the human haplotype map developed by the International HapMap Project. The new map will provide genomic context ng the HapMap's genetic variants, giv chers important clues to2 pinpoint the precise causative variants. The new map would enable researchers to more quickly zero in on disease-related genetic variants, speeding efforts to use genetic information to develop new strategies for diagnosing, treating and preventing common diseases. 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.” With current approaches, researchers can search for two types of genetic variants related to disease. The first type is very rare genetic variants that have a severe effect, such as the variants responsible for causing cystic fibrosis and Huntington’s disease. To find these rare variants, which typically affect fewer than one in 1,000 people, researchers often must spend years on studies involving affected families. However, most common diseases, such as diabetes and heart disease, are influenced by more common genetic variants. Most of these common variants have weak effects, perhaps increasing risk of a common condition by 25 percent or less. Recently, using a new approach known as a genome-wide association study, researchers have been able to search for these common variants. “Between these two types of genetic variants — very rare and fairly common — we have a significant gap in our knowledge. The 1000 Genomes Project is designed to fill that gap, which we anticipate will contain many important variants that are relevant to human health and disease,” said David Altshuler, M.D., Ph.D., of Massachusetts General Hospital in Boston and the Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University in Cambridge, Mass., who is the consortium’s co-chair and was a leader of the HapMap Consortium. One use of the new catalog will be to follow up genome-wide association studies. Investigators who find that a part of the genome is associated with a disease will be able to look it up in the catalog, and find almost all variants in that region. They will then be able to conduct functional studies to see whether any of the catalogued variants directly contribute to the disease. The 1000 Genomes Project builds on the human haplotype map developed by the International HapMap Project. The new map will provide genomic context surrounding the HapMap’s genetic variants, giving researchers important clues to