Hosted by the CRUK Integrative Cancer Epidemiology Programme

Most human genetic studies aiming to link rare genetic variation to common human phenotypes have prioritised the 1-2% of the genome that is protein coding. Few studies have analysed non-coding rare variation in the context of common phenotypes, largely due to the lack of whole genome sequence data and the difficulty of categorising non-coding variants into meaningful regulatory units. To begin addressing these challenges, we have performed two analyses of whole-genome sequence data in individuals from the UK Biobank: standing height and Olink proteomic data. I will begin by demonstrating methods and challenges. I will then present key results from our analysis of height, including the identification of an upstream non-coding regulatory region impacting HMGA1, and the identification of a miRNA host-gene impacting a range of gene-expression levels (P<1x10-9). I will then present our recent work analysing cis-genetic associations with circulating levels of nearly 3,000 proteins from the recently released Olink proteomic data. 

Biography: Dr Hawkes completed his PhD in the Mathematics of Solar Physics at the University of Exeter, before transitioning the study of Genetics of Complex Traits under the tutelage of Professors Timothy Frayling and Michael Weedon. His primary research interests have focussed on metabolic and obesity-related traits. More recently, he is interested in developing our understanding of the link between rare regulatory variants and complex traits at the population-level. In 2024 he was appointed as a Lecturer in Health Data Science at the University of Exeter.

If joining online: https://bristol-ac-uk.zoom.us/j/94361718751?pwd=B5LgCIgjLHGB6LcLaS2n5UGz1ygF0f.1