Title: On a novel coalescent model for genome-wide evolution of Copy Number Variations

Authors: Antonina Mitrofanova, Bhubaneswar (Bud) Mishra

Addresses: Department of Computer Science, Courant Institute of Mathematical Sciences, New York University, New York, NY, 10003, USA. ' Department of Computer Science, Courant Institute of Mathematical Sciences, New York University, New York, NY, 10003, USA

Abstract: Since we are limited in our knowledge of human demographic history and variations of recombination and mutation rates, large-scale computer simulation is a necessary tool in genetics. Here we propose and computationally simulate a model of evolution for unique and segmentally duplicated regions of human genome. Since such segmentally duplicated regions show a complex behaviour of copy number changes, our model will hopefully lead to a better understanding of the evolutionary developments of CNVs, algorithms for associations studies with CNV markers, and finally, for characterising parameters for stochastic diffusion models, describing asymptotic behaviour of evolutionary processes.

Keywords: segmental duplications; copy number polymorphism; coalescent process; CNVs; copy number variations; simulation; genetics; human genome; CNV markers; evolutionary processes.

DOI: 10.1504/IJDMB.2010.033522

International Journal of Data Mining and Bioinformatics, 2010 Vol.4 No.3, pp.300 - 315

Published online: 02 Jun 2010 *

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