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Short Tandem Repeats and Genetic Variation

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Genetic Variation

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

Abstract

Single nucleotide polymorphisms (SNPs) are widely distributed in the human genome and although most SNPs are the result of independent point-mutations, there are exceptions. When studying distances between SNPs, a periodic pattern in the distance between pairs of identical SNPs has been found to be heavily correlated with periodicity in short tandem repeats (STRs). STRs are short DNA segments, widely distributed in the human genome and mainly found outside known tandem repeats. Because of the biased occurrence of SNPs, special care has to be taken when analyzing SNP-variation in STRs. We present a review of STRs in the human genome and discuss molecular mechanisms related to the biased occurrence of SNPs in STRs, and its implications for genome comparisons and genetic association studies.

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Abbreviations

SNP:

single nucleotide polymorphism

bp:

base pair

STR:

short tandem repeat

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Author information

Authors and Affiliations

  1. AgroTech, Institute for Agri Technology and Food Innovation, Aarhus N, Denmark

    Bo Eskerod Madsen

  2. Bioinformatics Research Center (BiRC), University of Aarhus, Aarhus C, Denmark

    Palle Villesen & Carsten Wiuf

Authors
  1. Bo Eskerod Madsen
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  2. Palle Villesen
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  3. Carsten Wiuf
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Corresponding author

Correspondence to Carsten Wiuf .

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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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Madsen, B.E., Villesen, P., Wiuf, C. (2010). Short Tandem Repeats and Genetic Variation. 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_16

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  • DOI: https://doi.org/10.1007/978-1-60327-367-1_16

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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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