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A Short Primer on the Functional Analysis of Copy Number Variation for Biomedical Scientists

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Genetic Variation

Part of the book series: Methods in Molecular Biology ((MIMB,volume 628))

Abstract

Recent studies have highlighted the potential prevalence of copy number variation (CNV) in mammalian genomes, including the human genome. These studies suggest that CNVs may play a potentially important role in human phenotypic diversity and disease susceptibility. Here, we consider some of the in silico challenges of characterizing genomic structural variants. While the phenotypic impact of the vast majority of CNVs is likely to be neutral, some CNVs will clearly impact phenotype. Here, we review some of the key databases hosting CNV data and discuss some of the caveats in the analysis of CNV data. The task is now to translate some of the initial associations between CNVs and disease into causal variants.

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Author information

Authors and Affiliations

  1. Medicines Research Centre, GlaxoSmithKline Research & Development Limited, Stevenage, Hertfordshire, UK

    Michael R. Barnes

  2. Division of Psychological Medicine and Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London, London, UK

    Gerome Breen

Authors
  1. Michael R. Barnes
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  2. Gerome Breen
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Correspondence to Michael R. Barnes .

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Editors and Affiliations

  1. Medicines Research Centre, GlaxoSmithKline R&D Limited, Gunnels Wood Road, Stevenage, Hertfordshire, SG12NY, United Kingdom

    Michael R. Barnes

  2. Institute of Psychiatry, Social, Genetic & Developmental, King's College, Denmark Hill 111, London, SE58AF, United Kingdom

    Gerome Breen

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Barnes, M.R., Breen, G. (2010). A Short Primer on the Functional Analysis of Copy Number Variation for Biomedical Scientists. In: Barnes, M., Breen, G. (eds) Genetic Variation. Methods in Molecular Biology, vol 628. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60327-367-1_7

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  • DOI: https://doi.org/10.1007/978-1-60327-367-1_7

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-60327-366-4

  • Online ISBN: 978-1-60327-367-1

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