Population Genetics in the Personal Genome Era

Abstract Text: Guided by population and statistical genetic principles, our ultimate goal is to transform how medical genetic studies of biomedical traits are conducted on a global scale. In this talk, I will discuss the role of human population history and natural section in patterning the distribution of common and rare variants in the human genome. I will discuss how we can use this information to improve the design of medical sequencing studies and identify mutations of large effect underlying important traits. Examples include mapping genes for skin and hair pigmentation in a global cohort, preeclampsia in populations adapted to high altitude, and aggressive prostrate cancer in understudied US minority populations. I will emphasize how we can experimentally verify these associations for alleles of large effect.   I close with a discussion of how we can translate these findings into a clinical context through improving variant annotation and cataloguing.

Keywords: population genetics, genome