Dr Qinqin Huang
Qinqin’s work focuses on the genetic basis of human diseases and traits, functional consequences of genetic variants, and genetic prediction of complex diseases.
After I graduated from the Peking University with a Bachelor in Biological Science, I started my PhD with Mike Inouye at the University of Melbourne, where I developed an interest in uncovering the genetic architecture of human diseases and molecular traits. My PhD focused on the expression quantitative trait loci (eQTLs). I performed extensive, empirically driven eQTL simulations to explore eQTL study design and the performance of various analysis choices. Based on the insights of the simulation study, I selected optimal strategies for mapping eQTLs in two types of neonatal immune cells, monocytes and T cells, under resting and stimulatory conditions. I identified response eQTLs, with effects on gene expression modified by immune responses, for a great proportion of genes regulated by eQTLs. Lastly, I performed integrative analyses using the neonatal eQTLs and GWAS variants associated with immune-mediated diseases from external large cohort studies, to better understand the early-life origins of these diseases that develop later in life.
In 2019, I moved to the Wellcome Sanger Institute as a postdoc with Hilary Martin. Here, I am working on the genetic prediction of complex human diseases and traits, with particular focus on the transferability of polygenic scores derived from Europeans into South Asians. I will utilise different methods to construct polygenic scores, and potentially improve existing methods for disease prediction in South Asian populations. It is of great importance that non-European populations can also benefit from individualised disease prediction and personalised intervention and treatment. I will also be working on the genetic effects of rare homozygous loss-of-function variants on metabolites. This work will contribute to uncovering novel metabolite pathways, and providing insights into mechanisms of metabolic disorders as well as drug development.