1000 Genomes Project releases initial data
We know that more than 99% of genomes (genetic blueprints) of any 2 humans are the same, but it is the tiny 1% of genetic material that makes people different and contains key information about our sensitivities and vulnerabilities. The 1000 Genomes Project, built upon the International HapMap Project, is generating a detailed catalogue of common human genetic variation arranged into haplotypes, or chromosome 'neighbourhoods'. The database will be freely available to researchers. Since its 2008 launch, the 1000 Genomes Project partners have finalised three pilot projects, and are developing a public database containing information from the genomes of 2,500 people from 27 populations worldwide. The three pilot projects tested multiple strategies to generate a catalogue of genetic variants that exist in 1% or more of various sample populations (e.g. European, East Asian). According to the partners, the catalogue will be a huge help to researchers keen on investigating the contribution of genetic variation to disease. The pilot data set is available on the 1000 Genomes Project website and via the Amazon web services (AWS) computing cloud. 'I am indebted to all the project researchers who are making this collaboration so successful,' said Dr Richard Durbin of the Wellcome Trust Sanger Institute in the UK, who is also co-chair of 1000 Genomes Project. 'In the pilot projects we have made significant progress in optimising the use of next generation sequencing platforms to study human genetic variation, and we can now apply what we have learned to accelerate our efforts to sequence this reference collection of human genomes.' Commenting on the project's latest success, co-chair Dr David Altshuler of the Broad Institute in the US said: 'Completing the goals of the initial pilot projects has been critical to informing how to apply next-generation sequencing in human genetic research, and provides a solid foundation [for] the next stage of the project.' Dr Altshuler noted how the partners are eager to 'make rapid progress on the full set of 2,500 genomes and to provide the resulting data' that will be used by scientists studying genetic diseases. 'I fully expect that these data will more precisely define genetic risk factors already discovered, and lead to the discovery of many new risk factors for disease,' he added. Scientists from the International HapMap Project provided an initial database of more than 3 million human DNA (deoxyribonucleic acid) variants found in 270 DNA samples, and advanced a first generation of 'Genome Wide Association Studies' (GWAS) that have localised over 600 new genetic risk factors for various disorders including breast cancer, diabetes and schizophrenia. The 1000 Genomes Project is fuelling the research by exploiting next-generation DNA sequencing technologies resulting in a comprehensive, yet more freely available, database. The consortium members say this novel database will contain myriad information such as single letter changes (SNPs), small insertions and deletions (indels) and large changes in the structure and copy number of chromosomes (copy number variations). '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,' explained Dr Elaine Mardis of the Washington University Genome Center in the US, and member of the project steering committee. 'Researchers who have found regions of the genome associated with disease will be able to look at this data to see an almost complete set of genetic variants in those regions that might contribute directly to disease.' Key contributions are being made by experts in China, Germany, the UK and the US.
Countries
China, Germany, United Kingdom, United States