Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Structural variation of the human genome.

Andrew J Sharp1, Ze Cheng, Evan E Eichler

  • 1Department of Genome Sciences, University of Washington, Howard Hughes Medical Institute, Seattle, Washington 98195, USA.

Annual Review of Genomics and Human Genetics
|June 20, 2006
PubMed
Summary

The human genome is highly dynamic, with structural variations like insertions and deletions affecting about 5% of the genome and over 800 genes. These variations significantly influence human phenotypic diversity.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.

American journal of human genetics·2026
Same author

A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

Movement disorders : official journal of the Movement Disorder Society·2024
Same author

A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank.

Nature communications·2024
Same author

Increased frequency of repeat expansion mutations across different populations.

Nature medicine·2024
Same author

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

Nature genetics·2024
Same author

A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank.

medRxiv : the preprint server for health sciences·2024

Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • The human genome contains numerous structural rearrangements, including insertions, deletions, inversions, and large tandem repeats.
  • Recent research indicates that approximately 5% of the human genome exhibits structural variation within the normal population, impacting over 800 genes.

Purpose of the Study:

  • To provide a comprehensive review of identified structural rearrangements in the human genome.
  • To examine the influence of these structural variations on human phenotypic variation.

Main Methods:

  • Literature review of studies identifying and characterizing structural rearrangements in the human genome.
  • Analysis of the impact of these variations on gene function and phenotypic outcomes.

Related Experiment Videos

Main Results:

  • Significant large-scale variations exist in the human genome compared to the reference sequence.
  • Structural variations are a substantial source of human genetic diversity and phenotypic variation.

Conclusions:

  • The human genome is a dynamic entity with extensive structural variation.
  • Understanding structural variation is crucial for comprehending human phenotypic diversity and evolution.