To capture ever-changing human diversity
Kári Stefansson
Háskóli Íslands - University of Iceland, Læknadeild - Faculty of Medicine
I will discuss how I have studied human diversity in the context of human health and disease and have for that purpose applied genetics, transcriptomics and proteomics. I will discuss the differences in the risk captured with genetics from that captured with proteomics. The levels of proteins in blood rise and fall as a function of time to and from events and are therefore ideal instruments with which to capture risk of events at a particular point in time. The genetic risk scores are however best used to assess lifetime risks. I will discuss how the germline genome changes through recombinations and de novo mutations as it is moved from one generation to the next and the clinical implications of those changes. I will also discuss the relationship between recombinations and de novo mutations; how recombinations are under genetic control and how de novo mutations are influenced by recombinations.