Archive Page: UK10K

Archive Page: UK10K


The UK10K project enabled researchers in the UK and beyond to better understand the link between low-frequency and rare genetic changes, and human disease caused by harmful changes to the proteins the body makes.

Archive Page: The UK10K Project has ended. This page is being retained as a historical record of the research conducted by this project. It is no longer being updated.

About the Partnership

Project Design

Not all genetic changes are harmful or lead to disease, so the project took a two-pronged approach to identify rare variants and their effects:

  1. by studying and comparing the DNA of 4,000 people whose physical characteristics are well documented, the project aimed to identify those changes that have no discernible effect and those that may be linked to a particular disease;
  2. by studying the changes within protein-coding areas of DNA that tell the body how to make proteins of 6,000 people with extreme health problems and comparing them with the first group, the project sought to find only those changes in DNA that are responsible for the particular health problems observed.

The project received a £10.5 million funding award from the Wellcome Trust in March 2010 and sequencing started in late 2010.

The key findings of the project are published in Nature. A series of papers describing resources and application of the data was published at the same time in Bioinformatics and Nature Communications.

Partners and Funders


  • The UK10K project identifies rare variants in health and disease.

    UK10K Consortium, Walter K, Min JL, Huang J, Crooks L et al.

    Nature 2015;526;7571;82-90

  • An interactive genome browser of association results from the UK10K cohorts project.

    Geihs M, Yan Y, Walter K, Huang J, Memari Y et al.

    Bioinformatics (Oxford, England) 2015;31;24;4029-31

  • Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

    Huang J, Howie B, McCarthy S, Memari Y, Walter K et al.

    Nature communications 2015;6;8111