Building a platform for genetic inference from the Genomics England data


  • Prof Jonathan Marchini

    University of Oxford

  • Prof Simon Myers

    University of Oxford

  • Dr Garrett Hellenthal

    University College London

Project summary

Genomics England is creating a lasting legacy for patients, the NHS and the UK economy by sequencing 100,000 genomes from about 70,000 people. This dataset will uncover genetic mutational difference between people and together these will constitute a resource of genetic variation that can be used by researchers working to uncover the genetic basis of complex and rare diseases.

The genome of any individual in this study is comprised of paternal and maternal genetic material. A key task for the data analysis is to separate the genome into these two constituent parts, called haplotypes. This is a substantial computational and statistical challenge that requires new methodological development. We will also work to provide a web-server interface that allows researchers to use these haplotypes to make predictions about which mutations are carried by the people they are studying. A major component of this research will investigate the fine-scale ancestry of the samples.

Understanding how genetic material has spread geographically via historical migrations is important when studying the spread of disease variants and uncovering the genetic history of the UK is of wide public interest.