Dr Qinqin Huang

Staff Scientist

Qinqin’s work focuses on the genetic basis of common disease in the Genes & Health cohort and polygenic background in rare developmental disorders.

I joint 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 and electronic health record data. I have focused on diabetes, coronary artery disease, and their risk factors including serum lipid levels, body mass index, and blood pressure. South Asian ancestry individuals have elevated risk for these diseases but are under-represented in genetic studies. We systematically assessed the performance of polygenic scores in this cohort. Despite the attenuated performance compared to Europeans, the polygenic scores for coronary artery disease and type 2 diabetes still provide improved prediction over standard risk classification tools. We are also comparing imputation strategies using different reference panels in people of South Asian ancestry.

During my postdoc in the Martin group, I have also developed research interests in the genetic architecture of rare developmental disorders, using whole genome sequencing data in the Genomics England.

Prior to my postdoc, I did my PhD with Mike Inouye at the University of Melbourne. My PhD focused on the 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 drives gene expression across different immune and inflammatory conditions in neonatal samples. I identified response eQTLs, with effects on gene expression modified by immune responses, for a great proportion of genes regulated by eQTLs. I performed integrative analyses using the neonatal eQTLs and GWAS variants associated with immune-mediated disease, to demonstrate the potential role of early-life gene expression in the development of these diseases in adulthood.

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