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Sanger Institute to Sequence Genomes of 10,000 in UK under Three-Year Disease Project

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This article, originally published June 24, has been updated with additional information about the project.

The Wellcome Trust said last week that it has awarded £10.5M ($15.7 million) to the Wellcome Trust Sanger Institute and clinical collaborators throughout the UK to sequence and analyze the genomes of 10,000 people in the UK over the next three years. The goal of the project, called UK10K, is to discover rare genetic variants that are important in human disease.

Starting next month, the researchers plan to sequence the complete genomes of 4,000 people from two existing studies at low coverage, and the exomes of another 6,000 individuals with severe conditions believed to have a genetic component.

Besides the Sanger Institute, the project involves researchers at Bristol University, King's College London, the Medical Research Council, the UK Department of Health, the University of Oxford, the University of Cambridge, the University of California Los Angeles, and Edinburgh University. The Wellcome Trust, which made its award in March, is the primary funding source for the project. Richard Durbin, a researcher at the Sanger Institute, is the principal investigator.

The 4,000 samples for the full-genome project come from two ongoing studies: TwinsUK, which includes 11,000 identical and non-identical twins born in the UK, some of whom have been followed for more than 18 years; and the Avon Longitudinal Study of Parents and Children, ALSPAC, also known as "Children of the 90s" study, which includes more than 9,000 people from Avon in southwest England who have been followed since their birth in 1991/92.

Both groups have been studied extensively in terms of their phenotypic traits, health, and development, which will help the researchers correlate variants in their genomes with health-related differences.

The plan is to sequence their genomes to six-fold sequencing depth, according to the project's website. Variations discovered in the TwinsUK and ALSPAC cohorts will provide "greatly refined data" that will be imputed into genotyped cohorts to increase the power of the UK10K study as well as other case-control studies that the Wellcome Trust Case Control Consortium is involved in.

For the exome study, clinicians have recruited 6,000 individuals with severe conditions believed to have a genetic cause, including severe obesity, autism, schizophrenia, and congenital heart disease. Their exomes will be sequenced using new methods "based in part on cutting-edge techniques" developed by the Sanger Institute, according to the Wellcome Trust.

The exome analysis will start with cohorts with obesity and neurodevelopmental disorders and another eight disease areas are under consideration, according to the project's website.

UK10K plans to share sequence data rapidly with the scientific community: Primary sequence data passing quality control will be submitted to the European Genome-Phenome Archive within 60 days of generation, and final variant calls passing quality control will enter the EGA quarterly. All sequence and genetic variation data will be made available to researchers under a managed-access mechanism.

The project is the second large-scale sequencing effort launched in the UK last week, following the Royal Brompton Hospital's announcement that it plans to sequence the exomes of 10,000 heart disease patients over 10 yeas on Life Technologies' SOLiD (see story, this issue).

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