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Approved research

Scalable Haplotype Methods for Association Testing, Prediction, and Pleiotropy Inference

Principal Investigator: Dr Ira Hall
Approved Research ID: 56546
Approval date: January 31st 2020

Lay summary

Everyone inherits their DNA from mum and dad in chunks that are broken up by a process called recombination. While most mathematical models for dealing with DNA ignore the block-like structure of these chunks, we have developed a new mathematical and computational approach that understands how recombination works and how the chunks of DNA it produces are inherited. By better modelling the inheritance of DNA across individuals in the UK Biobank, we expect our methods to identify disease-associated genes and pathways overlooked by standard computational methods. Similarly, we expect our chunk-based approach to improve disease risk predictions, especially for individuals from minority groups or with mixed ancestry, thereby helping genetically-predisposed individuals learn about their risk and manage their care. The project will span 36 months, and most of the time will be spent on the fine-tuning and applying software based on these DNA chunks to the UK Biobank. We will make our method and results available as a resource for other members of the medical and scientific community.