Project launched to sequence 1,000 genomes

23 January 2008

A new project has been launched to fully sequence the genomes of 1,000 anonymous individuals. The project is being run by an international research consortium involving the Wellcome Trust Sanger Institute in Hinxton, UK, 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).
The so-called “1000 Genomes Project” project will use samples from anonymous volunteers who have previously given their informed consent for their DNA to be analyzed and placed in public databases such as the International HapMap Project.
The project is expected to cost around $30-50 million and will be divided into several phases. Phase 1, which is expected to last around a year to complete, will be divided into three pilot studies in order to decide how best to cost efficiently and cost effectively produce a map of human genetic variation. This will be followed by a 2 year production phase, during which sequence data will be delivered at a staggering average rate of about 8.2 billion bases per day – the equivalent of more than two human genomes every 24 hours!
The overall intention of the project is to create a publically available map of the human genome and its variations that will provide important biomedical information, although it is currently unclear exactly how genomic information of this sort will be translated into tangible health benefits. According to the official website, the primary goals of the project are threefold: to discover single nucleotide variants at frequencies of 1% or higher in diverse populations; to uncover variants down to frequencies of 0.1 – 0.5% in functional gene regions; and to reveal structural variants, such as copy number variants, insertions and deletions.
This 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 Collins MD PhD, adding “…this will change the way we carry out studies of genetic disease.”