A stew of mixed ingredients: Observational omics in the post-GWAS era

Abstract

The past 20 years have seen extensive profiling of the DNA. Collectively, scientists all across the world have identified many places in the DNA, known as loci, that impact human traits such as disease state or immune function. However, interpreting the results from these studies, known as genome wide association studies (GWAS), has been challenging. This thesis studies several approaches for interpreting GWAS results, with a specific focus on our immune system given its important role in preventing and causing disease. This is done through the use of so called ‘omics’ technologies, that can study the role of thousands of genes, proteins and genetic variants at the same time. By doing this, maps can be constructed of which genes and proteins interact to impact human traits. The ultimate goal of this research is to provide a better understanding of the cascade between the DNA and human traits. The hope is that building a specific understanding of how the variation in the DNA leads to the development of human traits, such as disease, will ultimately aid the development of drugs for these diseases