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Shen, Y., Luche, R., Wei, B., Gordon, M.L., Diltz, C.D. and Tonks, N.K. (2001) Activation of the Jnk signaling pathway by a dual-specificity phosphatase, JSP-1. Proceedings of the National Academy of Sciences, 98, 13613-13618. doi:10.1073/pnas.231499098

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• TITLE: Exploring correlations among copy number variants

  AUTHORS: Joseph Abraham, Thomas LaFramboise

  KEYWORDS: Copy Number Variant; Pathway; Selection

  JOURNAL NAME: Open Journal of Genetics, Vol.2 No.3, September 19, 2012

  ABSTRACT: There have been a great many recent studies investigating the extent of Copy Number Variation in the genomes of various species such as human, cattle, dogs and many others. The results from these studies indicate that the extent of the Copy Number Variation in the genome is considerable, and that in humans and in cattle, frequencies of different Copy Number Variants may differ in different breeds/ethnicities. This is not entirely unexpected as allele frequencies of certain loci vary with different breeds/ ethnicities/species and many known Copy Number Variants behave similarly to ordinary markers as regards Mendelian segregation. It is also well known in many instances, species/breeds/ethnicities show variation not only in marker allele frequencies, but also in the extent of Linkage Disequilibrium between markers. Thus it is worth investigating the extent of association between Copy Number Variants in different populations. In this paper we will investigate the extent of correlations between selected Copy Number Variants in different human populations and show that statistically significant correlations exist and are strongly population dependent.