Prof Emmanouil Dermitzakis

Title: Cellular genetics and genomics

Gene expression is an important phenotype that informs about genetic and environmental effects on cellular state. The elucidation of the genetics of gene expression (also know as eQTLs) is highly informative of the impact of genetic variants in the cell and the subsequent consequences in the organism. In this talk I will discuss recent advances in three key areas of the analysis of gene expression in human populations: (i) analysis of gene expression in multiple populations and tissues and the degree of overlap off genetic effects among populations and tissues; (ii) interrogation of gene expression in population samples using next generation sequencing (RNAseq) and the impact of the increased resolution on understanding the fine structure of genetic effects; (iii) integration of eQTLs with GWAS signals to understand the causal regulatory effects on complex traits. Perspectives on cellular phenotypic variation and the elucidation of their genetic effects will also be discussed.