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The population genetics of structural variation

Nature Genetics volume 39, pages S30–S36 (2007)Cite this article

Abstract

Population genetics is central to our understanding of human variation, and by linking medical and evolutionary themes, it enables us to understand the origins and impacts of our genomic differences. Despite current limitations in our knowledge of the locations, sizes and mutational origins of structural variants, our characterization of their population genetics is developing apace, bringing new insights into recent human adaptation, genome biology and disease. We summarize recent dramatic advances, describe the diverse mutational origins of chromosomal rearrangements and argue that their complexity necessitates a re-evaluation of existing population genetic methods.

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Figure 1: Diploid copy numbers, corresponding CNV genotypes and the underlying quantitative data from an array CGH experiment.
Figure 2: Cumulative number of RefSNP entries in dbSNP and cumulative number of variant loci in the Database of Genomic Variants, plotted as a function of time.
Figure 3
Figure 4: Estimates of fine-scale recombination rate across the 8p23 inversion.
Figure 5: Plots of population structure for 67 CNVs and 67 unlinked SNPs in 210 unrelated HapMap individuals, assuming three ancestral populations.

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Acknowledgements

The authors are grateful to G. Coop and C. Tyler-Smith for their comments on an earlier manuscript and to D. Andrews for data processing.

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Authors and Affiliations

  1. Donald F. Conrad is at the Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA,

    Donald F Conrad

  2. Matthew E. Hurles is at the Wellcome Trust Sanger Institute, Cambridge CB10 1SA, UK. meh@sanger.ac.uk,

    Matthew E Hurles

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Supplementary information

Supplementary Fig. 1

Heritability of a multiallelic CNV. (PDF 40 kb)

Supplementary Fig. 2

Haplotype patterns within a common polymorphic inversion on 8p23. (PDF 12 kb)

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Conrad, D., Hurles, M. The population genetics of structural variation. Nat Genet 39 (Suppl 7), S30–S36 (2007). https://doi.org/10.1038/ng2042

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