Genetic mutations provide the raw material for evolution, they are responsible for heritable disease and driving the development of cancer. We are interested in understanding how new DNA sequence changes arise and the consequences of those changes for human health. Many of our insights come from investigating the record of past evolution, using "the light of evolution" to explore the human genome. Our main aims are centred around three interlinked themes:
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Understanding mutational processes

Why DNA changes occur where they do, the patterns created and identifying hotspots for mutation.

Relating molecular genetic differences between individuals to traits they exhibit.

Interpretation of genetic variation

Which DNA changes contribute to meaningful differences between individuals such as disease state or disease risk, and which are of little consequence?

Evolution of gene regulation

The evolution of gene regulation

Understanding how gene regulation evolves and the effect of DNA sequence changes in controlling when genes are switched on.