I joined the Sanger Institute in 2019 as a postdoc with Hilary Martin. I have been analysing data from Genes & Health, a cohort of British South Asians with genetic data and linked electronic health records. Individuals of South Asian ancestry have elevated risk for cardiometabolic conditions but they are under-represented in genetic studies. We systematically assessed the performance of polygenic scores in this cohort. Despite the attenuated performance compared to Europeans, they still provided improved risk prediction for coronary artery disease and type 2 diabetes over standard risk classification tools.
During my postdoc in the Martin group, I have developed research interests in the genetic architecture of rare neurodevelopmental conditions. While these conditions often have a large Mendelian component, common genetic variants also play a role. Using data from the Genomics England 100,000 Genomes Project and the DDD study, we found that patients without a monogenic diagnosis have a higher polygenic burden than those with a monogenic diagnosis. Additionally, non-transmitted common alleles in the parents are associated with the child’s risk, suggesting potential genetic nurture effects and/or assortative mating. Our findings highlight a correlation between common and rare variants that confer risk.
I completed my PhD with Mike Inouye at the University of Melbourne. My PhD focused on expression quantitative trait loci (eQTLs). I performed extensive, empirically driven eQTL simulations to explore eQTL study designs and the performance of various analysis choices. I investigated how genetic variation influences gene expression across different immune and inflammatory conditions in neonatal samples. I identified response eQTLs (eQTLs with effects on gene expression modified by immune responses) for a great proportion of genes regulated by eQTLs. I performed integrative analyses using neonatal eQTLs and GWAS variants associated with immune-mediated diseases, demonstrating the potential role of early-life gene expression in the development of these diseases later in life.