Exploring correlations among copy number variants

Abstract

There have been a great many recent studies investi-gating 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 Varia-tion in the genome is considerable, and that in hu-mans and in cattle, frequencies of different Copy Number Variants may differ in different breeds/eth-nicities. This is not entirely unexpected as allele fre-quencies 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 dif-ferent 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.