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PMID: 18378036 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

The functional impact of structural variation in humans.

Trends in genetics : TIG ·Vol. 24 ·No. 5 ·2008-05-00 ·Pages 238-45

Hurles ME, Dermitzakis ET, Tyler-Smith C

Abstract

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.

MeSH Terms
Animals Chromosomes, Human/chemistry,genetics,physiology Evolution, Molecular Genetic Variation/physiology Humans
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Hurles Matthew E
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. [email protected]
Dermitzakis Emmanouil T
Tyler-Smith Chris
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Article Info
Journal
Trends in genetics : TIG
Abbr.
Trends Genet
ISSN
0168-9525
DOI
10.1016/j.tig.2008.03.001
Email
[email protected]
Published
2008-05-00
Epub
2008-00-02
Pages
238-45
Language
English
Region
England
NLM ID
8507085
PMCID
PMC2869026
Subset
IM
Grants
Wellcome Trust · United Kingdom
Wellcome Trust · 077009 · United Kingdom
Wellcome Trust · 077014 · United Kingdom
Wellcome Trust · 077046 · United Kingdom
External Links
PubMed source DOI: 10.1016/j.tig.2008.03.001 PMC Full Text View journal details
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