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Updated: Jul 6, 2026
04:52
Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
The functional impact of structural variation in humans
Matthew E Hurles1, Emmanouil T Dermitzakis, Chris Tyler-Smith
1The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. meh@sanger.ac.uk
Trends in Genetics : TIG
|April 2, 2008
Summary
Structural variation, including chromosomal rearrangements, significantly impacts human genomes. This review highlights its crucial roles in cellular function, disease development, and evolution.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Structural variation encompasses diverse chromosomal rearrangements impacting millions of bases in the human genome.
- Recent advancements have significantly improved our understanding of the extent and complexity of structural variations.
- Genome dynamism is increasingly recognized for its biological consequences.
Purpose of the Study:
- To review the accumulating evidence on the functional impact of structural variation.
- To explore the role of structural variation in cellular phenotypes, disease, and human evolution.
Main Methods:
- Literature review of recent studies on structural variation.
- Synthesis of data from diverse approaches investigating structural variation's functional impact.
Main Results:
- Structural variations have a substantial impact on cellular phenotypes.
- Genome dynamism driven by structural variation is linked to various diseases.
- Structural variation plays a significant role in human evolutionary processes.
Conclusions:
- Structural variation is a critical factor influencing cellular function and organismal traits.
- Understanding structural variation is essential for insights into human disease and evolution.
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