A previous public project, the International HapMap Project, provided an initial database of over 3 million human DNA variants present in 270 DNA samples. Information and methods developed by the HapMap Project fuelled a first generation of so-called 'Genome Wide Association Studies' (GWAS) that have localized over 600 novel genetic risk factors for common diseases such as diabetes, heart attack, inflammatory bowel disease, breast cancer, schizophrenia, and other disorders. These studies were limited by technology, however, to studying a subset of more common DNA variants (those with frequency greater than five to ten per cent).
The 1000 Genomes Project exploits next-generation DNA sequencing technologies to develop a much more complete database one that goes much lower in frequency, and one that is extended to more human populations. This database will contain all forms of variation single letter changes (termed 'SNPs'), small insertions and deletions (termed 'indels') and large changes in the structure and copy number of chromosomes (termed 'copy number variations'). This integrated map is a novel contribution, as previous studies have focused exclusively on one form of DNA variation (even though each of our genomes contains all variety of variation).
"The increased resolution of the 1000 Genomes map will provide researchers with far more detailed sequence information beyond common variants, including millions of less-common and rare variants", said Elaine Mardis, PhD, co-director of the Washington University Genome Center and member of the project steering committee. "Researchers who have f
|Contact: Don Powell|
Wellcome Trust Sanger Institute