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'1000 Genomes Project' launched

An international consortium of scientists has launched the '1000 Genomes Project', which aims to boost our understanding of human genetic variation by sequencing the genomes of 1,000 people from around the world. 'The 1000 Genomes Project will examine the human genome at a le...

An international consortium of scientists has launched the '1000 Genomes Project', which aims to boost our understanding of human genetic variation by sequencing the genomes of 1,000 people from around the world. 'The 1000 Genomes Project will examine the human genome at a level of detail that no one has done before,' said Richard Durbin of the UK's Wellcome Trust Sanger Institute, which is supporting the initiative. The scientists will draw on the very latest in sequencing technology, bioinformatics and population genomics to create a high resolution 'map' of the variations in our DNA which affect our health. The data from the project will be made freely available to the scientific community via the European Bioinformatics Institute (EBI), which is part of the European Molecular Biology Laboratory, and the US National Center for Biotechnology Information, which is part of the US' National Institutes for Health. At the genetic level, any two humans are over 99% identical. It is differences in the remaining 1% which account for individual differences in susceptibility to disease, response to drugs and reactions to other environmental factors. The new project will look at single-letter differences in DNA, as well as structural variants, in which whole sections of the genome have been rearranged, deleted or duplicated. Previous studies have linked certain genetic variants to a range of common diseases, including diabetes, coronary artery disease, cancer, rheumatoid arthritis, inflammatory bowel disease and the eye disease age-related macular degeneration. The project aims to produce a catalogue of variants that are found at a frequency of at least 1% in the human population. This will require the sequencing of the genomes of at least 1,000 people. These people, who come from a diverse range of ethnic groups, will not have any medical information collected from them and will be completely anonymous. An expert working group will examine the ethical, legal and social issues relating to the project. '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 Francis Collins, Director of the National Human Genome Research Institute in the US. 'Our existing databases do a reasonably good job of cataloguing variations found in at least 10% 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% level. This will change the way we carry out studies of genetic disease.' Once the project is fully up and running, it will produce a veritable torrent of genetic data, sequencing around 8.2 billion bases per day, the equivalent of more than two human genomes every 24 hours. 'This project will examine the human genome in a detail that has never been attempted - the scale is immense,' said Gil McVean of the University of Oxford, UK. 'At six trillion DNA bases, the 1000 Genomes Project will generate 60-fold more sequence data over its three-year course than have been deposited into public DNA databases over the past 25 years.' The project costs are estimated at between USD 30 million and 50 million (€20.5 to 34.2 million). Using traditional sequencing methods the costs would have been closer to USD 500 million (€343 million), but the scientists aim to keep the costs down by using pioneering sequencing methods in the most efficient and cost-effective manner. Ultimately it will set the scene for the use of personal genomics in medicine, in which people's genomes will be routinely sequenced to verify their disease risks and likely response to different drugs. 'The 1000 Genomes Project represents an important step in relating DNA sequence information to each individual's risk of disease and response to drugs,' commented the EBI's Paul Flicek. 'We're on the cusp of building an important bridge between biology and medicine.'

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