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Population genetics of human copy number variations: models and simulation of their evolution along and across the genomes

Published: 16 March 2008 Publication History

Abstract

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. In this paper, we propose and computationally simulate a model of evolution for unique and segmentally duplicated regions of human genome, which manifest in genome-wide Variations in Copy Number. Copy Number Variations (CNVs) are known for their possible association with genomic diseases and predisposition to various health conditions, and yet, the underlying population genetic models, needed for association studies, have remained largely undeveloped. Additionally, Segmentally Duplicated (SD) regions of the human genome are of a specific interest, since they exhibit a complex behavior of copy number changes and are specifically known for catalyzing pathogenic and unstable genomic rearrangements. Our main contribution is in suggesting mechanisms for evolution of Copy Number changes in regions of segmental duplication of the human genome, which is essential for association studies involving CNV markers and estimation of parameters of stochastic diffusion that determine asymptotic behavior of such evolutionary processes.

References

[1]
Sharp AJ, Locke DP, McGrath SD, et al, "Segmental duplications and copy-number variation in the human genome," Am J Hum Genet, 77(1): 78--88, July 2005.
[2]
Locke DP, Sharp AJ, et al, "Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome," Am J Hum Genet., 79(2): 275--290, August 2006.
[3]
Redon R, et al "Global variation in copy number in the human genome," Nature, 444(23): 444--454, Nov 2006.
[4]
Moran, PAP, The Statistical Processes of Evolutionary Theory. Clarendon Press, Oxford, 1962.
[5]
www.cs.nyu.edu/~antonina/paper.htm

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cover image ACM Conferences
SAC '08: Proceedings of the 2008 ACM symposium on Applied computing
March 2008
2586 pages
ISBN:9781595937537
DOI:10.1145/1363686
Permission to make digital or hard copies of all or part of this work for personal or classroom use is granted without fee provided that copies are not made or distributed for profit or commercial advantage and that copies bear this notice and the full citation on the first page. Copyrights for components of this work owned by others than ACM must be honored. Abstracting with credit is permitted. To copy otherwise, or republish, to post on servers or to redistribute to lists, requires prior specific permission and/or a fee. Request permissions from [email protected]

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Association for Computing Machinery

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Published: 16 March 2008

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Author Tags

  1. copy number variations (CNV)
  2. population genetics
  3. segmental duplications (SD) & coalescent process

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SAC '08
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SAC '08: The 2008 ACM Symposium on Applied Computing
March 16 - 20, 2008
Fortaleza, Ceara, Brazil

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Overall Acceptance Rate 1,650 of 6,669 submissions, 25%

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