This month marks the tenth anniversary of the completion of the first draft human genome sequence, with a range of events and commentaries marking the occasion. In an interview with the Times, Francis Collins, who led the US arm of the international Human Genome Project (HGP), has said that he expects most people to have their genomes fully sequenced within the next ten years.
In the UK, biomedical research charity the Wellcome Trust, which in partnership with the Medical Research Council (MRC) led the UK HGP sequencing efforts, has today launched a new project to sequence 10,000 human genomes. This is intended to advance understanding of the biological basis of difference diseases, and may also in some cases produce findings of more immediate clinical relevance.
The Wellcome Trust Sanger Institute is to work with other UK researchers on the UK10K project, which will involve genomic sequencing and analysis of two groups. Full genome sequences will be produced for 4000 individuals already involved in long-term medical research projects, the TwinsUK (see previous news) and ALSPAC (see previous news) studies.
Exome (gene-coding region only) sequences will be completed for a further 6000 individuals with specific severe medical conditions thought to have a significant genetic cause including extreme obesity, autism, schizophrenia and congenital heart disease.
Lead investigator Dr Richard Durbin commented: "Although genetics over the past five years has yielded a rich harvest of hundreds of variants associated with disease, much more remains to be discovered…we are seizing the chance to use technological advances in DNA sequencing to find variants that have even greater consequence for health” (see press release).