EMBARGOED for release Contact Tues. Jan. 22. 2008 Geoff Spencer, NHGRI 8 a.m. eastern 301402-0911 spencer@mail. nih.gov International Consortium Announces the 1000 Genomes Project Major Sequencing Effort Will Produce Most Detailed Ma Of Human Genetic Variation to Support Disease Studies 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 nstitute(NHGRi), part of the National Institutes of Health(NId) 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 e 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 Any two humans are more than 99 percent the same at the genetic level. However, it is important to understand the small fraction of genetic material that varies among people because it can help explain individual differences in susceptibility to disease response to drugs or reaction to environmental factors. Variation in the human genome is organized into local neighborhoods called haplotypes, which are stretches of DNA usually inherited as intact blocks of information Recently developed catalogs of human genetic variation, such as the Hap Map, have proved valuable in human genetic research. Using the HapMap and related resources, researchers already have discovered more than 100 regions of the genome containing genetic variants that are associated with risk of common human diseases such as diabetes, coronary artery disease, prostate and breast cancer, rheumatoid arthritis, inflammatory bowel disease and age-related macular degeneration follow those studies with costly and time-consuming DNA sequencing to help dust However, because existing maps are not extremely detailed, researchers often1 EMBARGOED for Release Contact Tues., Jan. 22, 2008 Geoff Spencer, NHGRI 8 a.m. Eastern 301-402-0911 spencerg@mail.nih.gov International Consortium Announces the 1000 Genomes Project Major Sequencing Effort Will Produce Most Detailed Map Of Human Genetic Variation to Support Disease Studies 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.” Any two humans are more than 99 percent the same at the genetic level. However, it is important to understand the small fraction of genetic material that varies among people because it can help explain individual differences in susceptibility to disease, response to drugs or reaction to environmental factors. Variation in the human genome is organized into local neighborhoods called haplotypes, which are stretches of DNA usually inherited as intact blocks of information. Recently developed catalogs of human genetic variation, such as the HapMap, have proved valuable in human genetic research. Using the HapMap and related resources, researchers already have discovered more than 100 regions of the genome containing genetic variants that are associated with risk of common human diseases such as diabetes, coronary artery disease, prostate and breast cancer, rheumatoid arthritis, inflammatory bowel disease and age-related macular degeneration. However, because existing maps are not extremely detailed, researchers often must follow those studies with costly and time-consuming DNA sequencing to help