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Structural variation of the human genome.

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Affiliations

  • 1. Department of Genome Sciences, University of Washington, Howard Hughes Medical Institute, Seattle, Washington 98195, USA.
      Authors
    • Sharp AJ 1
    (1 author)

Annual Review of Genomics and Human Genetics, 01 Jan 2006, 7:407-442
https://doi.org/10.1146/annurev.genom.7.080505.115618 PMID: 16780417 

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Abstract 

There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rearrangements identified to date in humans, with particular reference to their influence on human phenotypic variation. Our current knowledge of the extent of human structural variation shows that the human genome is a highly dynamic structure that shows significant large-scale variation from the currently published genome reference sequence.

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Read article at publisher's site: https://doi.org/10.1146/annurev.genom.7.080505.115618

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