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Related Experiment Videos

Structural variation in the human genome.

Lars Feuk1, Andrew R Carson, Stephen W Scherer

  • 1The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.

Nature Reviews. Genetics
|January 19, 2006
PubMed
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Structural variants, including deletions and duplications, are a major source of human genetic variation, impacting diversity and disease susceptibility. These large-scale genomic changes are now recognized as significant contributors to human differences.

Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Single Nucleotide Polymorphisms (SNPs) were initially considered the primary drivers of human genetic and phenotypic variation.
  • Recent advancements in genome-scanning technologies have revealed a broader spectrum of genetic alterations.

Purpose of the Study:

  • To highlight the significant role of structural variations in human genetic diversity.
  • To underscore the contribution of structural variants to human disease susceptibility.

Main Methods:

  • Analysis of human genome data.
  • Application of advanced genome-scanning technologies.

Main Results:

  • Structural variations, encompassing deletions, duplications, copy-number variants, insertions, inversions, and translocations, are prevalent in the human genome.

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  • These variants can account for millions of nucleotides of genomic heterogeneity per individual.

    • Conclusions:

    • Structural variations represent a substantial source of human diversity.
    • Structural variants are increasingly recognized as important factors in disease susceptibility.