Scientific article

The functional impact of structural variation in humans

Published inTrends in genetics, vol. 24, no. 5, p. 238-245
Publication date2008

Structural variation includes many different types of chromosomal rearrangement and encompasses millions of bases in every human genome. Over the past 3 years, the extent and complexity of structural variation has become better appreciated. Diverse approaches have been adopted to explore the functional impact of this class of variation. As disparate indications of the important biological consequences of genome dynamism are accumulating rapidly, we review the evidence that structural variation has an appreciable impact on cellular phenotypes, disease and human evolution.

  • Animals
  • Chromosomes, Human/*chemistry/genetics/*physiology
  • Evolution, Molecular
  • Genetic Variation/*physiology
  • Humans
Citation (ISO format)
HURLES, Matthew E., DERMITZAKIS, Emmanouil, TYLER-SMITH, Chris. The functional impact of structural variation in humans. In: Trends in genetics, 2008, vol. 24, n° 5, p. 238–245. doi: 10.1016/j.tig.2008.03.001
Updates (1)
ISSN of the journal0168-9525

Technical informations

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