BIO - 132 Population Genetics of Human Copy Number Variations : Models and Simulation of their Evolution Along and Across the Genomes

Population genetic models play a significant role in human genetic research, since they promise to provide a better understanding of both evolution of normal variations of the genomes as well as development of disease promoting genomic segments. Currently, since we are limited in our knowledge about human demographic history and variations of recombination and mutation rates, large-scale computer simulation has become an important and necessary tool in genetics to generate and observe the behavior of these and other evolutionary models. In this paper, we propose and computationally simulate a model of evolution for unique and segmen-tally duplicated regions of human genome, which manifest in genome-wide variations in copy number. Copy Number Variations (CNVs) have attracted attention of many scientists because of their possible association with genomic diseases and predisposition to various health conditions, and yet, the underlying population genetic models, needed for association studies, remain largely undeveloped. Additionally, segmentally duplicated regions of the human genome show a complex behavior of copy number changes (compared to unique genomic regions) and are specifically known for catalyzing pathogenic and unstable genomic rearrangements; and thus, present genomic hot spots requiring further studies. Therefore, our simulated evolutionary model opens new horizons for understanding mechanisms underlying the evolutionary developments (especially in segmentally duplicated regions) of copy number variations, for building the foundations for associations studies involving CNV markers, and finally, for characterizing parameters for stochastic diffusion models to understand asymp-totic behavior of such evolutionary processes.