Copy number variation in European isolates

From the paper:

Finally, we show by the application of kinship coefficients that the majority of rare CNVs are passing through germ-lines rather than being de novo variants, and therefore are heritable and provide an index of relatedness. The inheritance of CNVs could be observed in actual pedigrees, which confirmed the increased relatedness between CNV carriers. The similar relationship between genetic variants and kinship was observed in a study of the same population in Vis, which found kinship inferred from pedigree information was consistent with segregation of SNPs in the population [44].

PLoS ONE 6(8): e23087. doi:10.1371/journal.pone.0023087

Copy Number Variation across European Populations

Wanting Chen et al.

Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide one such convenient and informative source. Here, we investigate copy number variants from genome wide scans of single nucleotide polymorphisms in three European population isolates, the island of Vis in Croatia, the islands of Orkney in Scotland and the South Tyrol in Italy. We show that whereas the overall copy number variant frequencies are similar between populations, their distribution is highly specific to the population of origin, a finding which is supported by evidence for increased kinship correlation for specific copy number variants within populations.

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