For complex traits, such as cardiometabolic disease, we increasingly recognize that the intergeneric space between protein coding genes (PCGs) contains highly ordered regulatory elements that control expression and function of PCGs and in themselves can be actively transcribed molecules. Indeed, over 50% of genome-wide association studies (GWAS) of complex traits identify single nucleotide polymorphisms (SNPs) that fall in intergenic regions and it is only recently becoming apparent that these regions are highly organized to perform specific functions. A next step in advancing precision medicine is careful and rigorous interrogation of the role of these regulatory elements, and their interplay with known PCGs and environmental factors, in the heritability of complex disease phenotypes. This tutorial focuses on analytic techniques and R tools designed to uncover these complex, and largely uncharacterized relationships.
For details, refer to tutorial description.