It is now almost routinely possible to identify genetic mutations across the human genome which drive disease or regulate complex human traits. However, the majority of these mutations are found in noncoding regions beyond the borders of known genes which makes their interpretation challenging. These noncoding regions encode a range of regulatory functions to control when and where genes are expressed.

Promoters and enhancers represent such types of noncoding loci, responsible for regulating gene expression  and which are significantly enriched for these phenotypically-associated variants. I have shown that these elements have undergone pervasive birth and death during mammalian evolution. Surprisingly, it is those elements which are evolutionarily volatile which are most likely to harbour functionally important, regulatory variants within the human population.

My research studies the regulatory landscape of the human genome to discover how its rewiring drives variation in medical phenotypes and disease risk across individuals, populations and species.