A detailed genetic analysis of nearly 10,000 individuals – including 2,000 participants from Children of the 90s – has been carried out in an effort to explore how rare differences in our genes contribute to human disease. The main discoveries are reported in two papers published in Nature today [14 September 2015].

Known as UK10K, the work was funded by the Wellcome Trust and included researchers from many research centres (including the MRC Integrative Epidemiology Unit at the University of Bristol) who together undertook one of the largest collections of genetic data to date.

What’s significant about this is the level of physical/health data linked to the genetic resource and the opportunity this gives researchers to explore the role genes play in our health.

For example, the researchers have found new genetic links to cholesterol and to bone health.

The papers released today are based on an overall description and report of main findings from the study (Nature), a focused examination of bone health and new understanding of genetic contributors to it (Nature), a description of the legacy 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).

Together these papers chart an important contribution to our understanding of genetics at the level of the population and its contribution to both rare and common diseases. 

Dr Nic Timpson 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.