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Copy Number Variation in Human Health, Disease and Evolution

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Genomic Elements in Health, Disease and Evolution

Abstract

Human genetic variability can be either alterations in the sequence of the genome or structural alterations that do not affect the genome sequence. Copy Number Variants (CNV) are a large category of structural variability that result in copy number differences between individuals. CNV can reside in both coding and junk DNA. Importantly CNV are important contributors to non-pathogenic and pathogenic variability between individuals. In this chapter we discuss the mechanisms of formation of CNV, the evolutionary forces acting on CNV, methods for their detection and evaluation, and their contribution to normal and pathogenic human variability.

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Authors and Affiliations

  1. Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 23462, Nicosia, Cyprus, 1683

    Carolina Sismani Ph.D. & Costas Koufaris Ph.D.

  2. Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Kallipoleos 75, 1678, Nicosia, Cyprus

    Konstantinos Voskarides Ph.D.

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  1. Carolina Sismani Ph.D.
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  2. Costas Koufaris Ph.D.
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  3. Konstantinos Voskarides Ph.D.
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Correspondence to Carolina Sismani Ph.D. .

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  1. Department of Life and Health Sciences and University of Nicosia Medical School, University of Nicosia, Nicosia, Cyprus

    Kyriacos Felekkis

  2. Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus

    Konstantinos Voskarides

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Sismani, C., Koufaris, C., Voskarides, K. (2015). Copy Number Variation in Human Health, Disease and Evolution. In: Felekkis, K., Voskarides, K. (eds) Genomic Elements in Health, Disease and Evolution. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-3070-8_6

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