The functional impact of structural variation in humans.
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.
Hurles
Matthew E
ME
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. meh@sanger.ac.uk
Dermitzakis
Emmanouil T
ET
Tyler-Smith
Chris
C
D000818:Animals; D002877:Chromosomes, Human / Q000737:chemistry* / Q000235:genetics / Q000502:physiology*; D019143:Evolution, Molecular; D014644:Genetic Variation / Q000502:physiology*; D006801:Humans