HUMAN EVOLUTIONARY GENETICS

The course brings together population genetics theory, empirical studies and genetic models of disease to provide an integrated perspective on the evolutionary forces that shape human variation and in particular disease risk. Our goals are to provide you with a basic toolbox with which to approach human variation data and in parallel, to expose you to cutting-edge research and to the forefront of knowledge in human population genetics. To this end, the course includes in-depth discussions of classic papers in these fields coupled with recent findings employing new technologies and approaches.

To organize the material, we rely heavily on population genetic models. We start with consideration of single sites, covering neutral models, forward and backwards in time; models of selection; mutation-selection balance and the nearly neutral theory. We then turn to linkage and linkage disequilibrium; population structure; linked selection and tests for positive selection. Finally, we provide a brief introduction to quantitative genetics and complex trait mapping from a population genetics perspective.

The format consists in alternating lectures and discussions of primary research papers. On most weeks, there will also be a section, led by the TA (which are compulsory, unless otherwise noted). Grades will be based on class participation (20%), five homework assignments (50%) and a final class presentation (30%). Students can work together on reading the papers for class discussion and presentation, but must work on their homework assignments alone.

Reading will consist of approximately one textbook chapter and two primary research papers per week. Papers will be provided as pdfs on the class website. Textbook reading for the course will be drawn primarily from “Population Genetics, A Concise Guide” by John Gillespie 2nd edition; the specific chapters will be provided as pdfs. Additional books that provide background for a number of topics in the class are: “Human Evolutionary Genetics” (2nd edition) by Jobling, Hurles, and Tyler-Smith, “Coalescent Theory” by Wakeley harder and “Elements of Evolutionary Genetics” by Charlesworth and Charlesworth harder.