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Rare variants in health and disease: latest Nature findings from UK10K project published

Generic image of a DNA sequence

Press release issued: 14 September 2015

A detailed study of the genetic data of nearly 10,000 individuals — one of the largest analyses of its kind to date — has been carried out in an effort to explore how rare differences in our genes contribute to human disease. The main findings, led by an international team including researchers from the University of Bristol’s MRC Integrative Epidemiology Unit, are reported in two papers published in Nature and Nature Communications [14 September 2015].

The UK10K Wellcome Trust-funded study, which included analysis of 2,000 participants from the University of Bristol’s Children of the 90s project, chart an important contribution to our understanding of genetics at the level of the population and its contribution to both rare and common diseases. 

In the papers, the research teams report new genetic links to cholesterol and to bone health, a significant link between the level of physical/health data linked to the genetic resource and the opportunity this gives scientists to explore the role genes play in our health.

The papers provide an overall description and report of the study’s main findings (Nature), a focused examination of bone health and new understanding of genetic contributors to it (Nature), a description of the resource that this study is leaving and how genetic information from this study might be used to help other investigations with genetic data (Nature Communications) and an online browser to make the resource accessible to the research community (Bioinformatics).

Dr Nic Timpson, one of the study's co-authors and a Reader in Genetic Epidemiology from the MRC Integrative Epidemiology Unit at Bristol’s School of Social and Community Medicine said: “Alongside the additional information gained about the likely contribution of genetic variation to complex outcomes and health-related measures, the UK10K project has illustrated the ability to collect and process genetic data on the whole genomes of thousands of individuals. Resources such as Children of the 90s were instrumental to this effort and show the value of actively engaged cohorts to the advance of population-scale science.”


'The UK10K project identifies rare variants in health and disease' by Klaudia Walter in Nature 14 September 2015.

‘Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture' by Hou-Feng Zheng et al in Nature 14 September 2015.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel’ by Jie Huang et al in Nature Communications 14 September 2015.

An interactive genome browser of association results from the UK10K cohorts project’ by Nicole Soranzo et al in Bioinformatics August 26 2015.


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