Pathway based analysis tests whether sets of functionally related genes are enriched, or overrepresented with associations for a polygenic disease or trait. The application of pathway based analyses to neuroimaging-genetics data offers some unique challenges. Here, I will present an update on my research in the application of pathway based analyses to brain intermediate phenotypes – systems level phenotypes for schizophrenia and give an overview of different tools and methods that can be used to conduct these analyses in this fast moving field. A major focus will be different techniques that may be employed to provide correction for potential gene-wise confounders in the data (such as linkage equilibrium properties, gene size, SNP density per gene, number of recombination hotspots per gene). Tools assessed will include the Magenta tool (Segre et al., 2010), the LDsnpR tool in combination with GSEA (Christoforou et al., 2012), and an adapted version of Goeman’s global-test for over-representation (Goeman et al., 2004).
ZI Mannheim, Therapy Building, small lecture hall,