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First insights from UK genome-sharing project

21 September 2015
Appeared in BioNews 820

The first findings from the UK10K project, the largest population genome-sequencing effort to date, have been made available to worldwide researchers.

The project, launched in 2010, aims to identify rare genetic variants as they relate to human disease by sequencing the genomes of 10,000 people.

The initial data, published in Nature Communications, provide the genetic makeup of 4000 healthy individuals as well as partial (exome) sequencing of 6000 people with conditions such as autism and schizophrenia.

Based on an analysis of this data, a team of scientists has already described a genetic variant with important implications for bone mineral density and fractures caused by osteoporosis.

The discovered genetic variant is near a gene, called EN1, which has never been linked to the condition.

'The effect of this uncommon genetic variant that we identified in this gene is twice as large as any previously identified genetic variants for bone mineral density and fracture,' said Dr Vince Forgetta, the first author of the study and a Research Associate at McGill University in Montreal, Canada.

The researchers, who published their analysis in Nature, say the finding could lead to new directions in research and potentially new therapies for osteoporosis.

Scientists working on the UK10K project say that the datasets can serve as a reference for the characterisation of rare disease variants in large population samples, enabling researchers to discover the missing links and 'fill in the gaps' in lower resolution studies, making future analyses quicker and cheaper.

'In earlier studies either very rare variants with big effects or common variants, which usually only have small effects, could be analysed,' commented Dr Richard Durbin, from the Wellcome Trust Sanger Institute in Cambridge, who worked on the project.

'Now we have been able to explore an increased part of the spectrum of variation in between the very rare and the common ones.'

However, the researchers note that to make similar discoveries for complex diseases, a much greater number of genomes will need to be sequenced.

'For complex traits and diseases much larger sample sizes will be required in future studies,' said Dr Nicole Soranzo from the Sanger Institute. 'The data and results produced by this project will be instrumental for these future efforts.'

10,000 UK genomes project explores the contribution of rare variants to human disease and its risk factors
Wellcome Trust Sanger Institute |  14 September 2015
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Nature Communications |  14 September 2015
Novel gene implicated in osteoporosis
McGill University (press releases) |  14 September 2015
UK 10K genomes project shares its data
PHG Foundation |  15 September 2015
UK DNA shared in worldwide search for genetic causes of disease
The Guardian |  14 September 2015
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
Nature |  14 September 2015
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