Advisors: Jun Li, Sebastian Zoellner
"Mapping the Landscape of Mutation Rate Heterogeneity in the Human Genome: Approaches and Applications"
All heritable genetic variation is ultimately the result of mutations that have occurred in the past. Understanding the processes which determine the rate and spectra of new mutations is therefore fundamentally important in efforts to characterize the genetic basis of heritable disease, infer the timing and extent of past demographic events (e.g., population expansion, migration), identify signals of natural selection, and many other active areas of research in the field of human genomics. This dissertation aims to describe patterns of mutation rate heterogeneity in detail, identify factors contributing to this heterogeneity, and develop methods and tools to harness this knowledge for more effective and efficient analysis of whole-genome sequencing data.