Dominique May West
Researching the genetics of Hypertrophic cardiomyopathy
I am in my first year of my DPhil focusing mainly on the computational analysis of common variants and how they can contribute to Hypertrophic Cardiomyopathy (HCM).
The means by which rare variants lead to HCM has been elucidated to some extent; however, the effects of common variants is still largely unknown. Currently my work comprises of investigating these common variants with the aim of identifying which genes they regulate.
My work therefore mainly focuses on the prioritisation of genes within defined loci (determined by proximity to the lead common variants). The prioritisation utilises gene expression data from GTEx and also takes into account the specificity of expression in the heart. Using both of these values, I have devised a distance-based approach which assesses the relationship between the two and prioritises genes while taking both into account.