Research

I aim to advance GATE with population-scale proteomics and long-read transcriptomics, mapping causal disease mechanisms across complex diseases to discover targets for new therapeutics. I am interested in understanding how disease-critical genes are regulated, what role local and distant genetic effects play, and what this tells us about the genetic architecture of complex traits in general. Finally, I am exploring the genetic differences in disease risk that may have arisen over time between populations of different ancestry.

A method to detect effector (core) genes mediating disease. It builds on the omnigenic model (Boyle et al., 2017) and uses the GENOSCORES platform to compute eQTL and pQTL scores, aggregating trans-QTL effects into genome-wide scores that are then tested for association with disease. Supported by the UK/Canada Collaboration on the genetics of long-term diabetes complications.

Using GENOSCORES and the GATE method to detect effector (core) genes mediating systemic lupus. A collaboration with GENYO — Centro Pfizer, Universidad de Granada, Junta de Andalucía de Genómica e Investigación Oncológica.

A collaboration with the Kague Lab investigating the genetics of osteoarthritis. The collaboration includes two shared PhD students whom I co-supervise.

I am a lead developer and maintainer of the GENOSCORES code base, server and database. GENOSCORES comprises a curated database of published GWAS summary statistics, a web platform, an R package, a suite of software tools and a REST API. It is used with individual-level genome-wide SNP data to calculate genotypic scores for intermediate phenotypes. Supported by the Academy of Medical Sciences Springboard award.

I train predictive models with hierarchical shrinkage priors using the hsstan package to predict treatment response from panels of biomarkers predictive of synovial pathotypes in rheumatoid arthritis. A collaborative project within the UK-led MATURA and TRACT-RA consortia.

A parametric modelling application for the elastic stability of the mitotic spindle in several cell types during mitosis, using continuum mechanics and finite-element analysis. Developed as part of my PhD.

I co-initiated, managed and developed the web platform for the 3D printing service at the University of Southampton. Access is now restricted to registered users since the application moved behind the university firewall.