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Ten years on, Wellcome Trust launches study of 10,000 human genomes in UK
Date:6/24/2010

originally from Avon in southwest UK, followed from birth in 1991/2. The data for each group includes extensive description of their health and their development.

Studying this large group will help researchers build a near-complete catalogue of genetic variation in these 4,000 people. The depth of information recorded from them will provide a real opportunity to tie genetic variants to individual differences in health-related measurements. This should help identify the few thousand genetic variants amongst the 3 million each of us carries that are important in disease.

The information gathered from these 4,000 will be strengthened by the second component of 6,000 people, recruited by clinicians, who have a severe effect thought to have a genetic cause. These people have one of several conditions, including severe obesity, autism, schizophrenia and congenital heart disease. The gene-containing regions of their genomes known as 'exomes' which are likely to include the genetic variants important in their condition, will be analysed using new methods based in part on cutting-edge techniques developed at the Wellcome Trust Sanger Institute.

"We are fortunate in the UK to have such excellent collections of clinical samples provided by volunteers to help research and to help others," says Professor Tim Spector, who leads the TwinsUK study at King's College London. "10,000 volunteers have contributed to this, the largest genome sequencing project so far undertaken. It's a stunning commentary on the generosity of participants in UK studies."

The researchers point out that the results will have most immediate impact in genetics, contributing to an ongoing transformation of our understanding of human genetic variation. In some cases this may have direct clinical relevance. But more often it will lead to advance in medical science in understanding disease biology, which should, in time, reach through to medical applications.

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Contact: Craig Brierley
c.brierley@wellcome.ac.uk
44-207-611-7329
Wellcome Trust
Source:Eurekalert

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