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Related Experiment Video

Updated: Jul 11, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Applications of advanced technologies for detecting genomic structural variation.

Vincent A Laufer¹, Thomas W Glover², Thomas E Wilson²

¹Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Mutation Research. Reviews in Mutation Research

|November 6, 2023

Summary

Recent advances in genomic technology now allow accurate identification of chromosomal structural variations (SVs), improving our understanding of their impact on human health and disease. New genomic assemblies and technologies are poised to revolutionize the study of SVs in research and clinical settings.

Keywords:

Copy number variant Cytogenetics Long-read sequencing Next-generation sequencing Structural variant Technology

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Last Updated: Jul 11, 2025

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Area of Science:

Genomics
Human Genetics
Bioinformatics

Background:

Chromosomal structural variations (SVs) significantly influence human health and disease but remain poorly characterized due to technical limitations of past genomic assays.
Recent technological advancements enable precise identification and localization of SVs, prompting new research into their risk factors and human impacts.

Purpose of the Study:

To define and classify human SVs and their mechanisms of generation.
To review the technical processes and implications of the first gapless human genome assembly.
To assess the strengths and limitations of emerging SV detection technologies for diverse applications.

Main Methods:

Review of current and emerging genomic technologies for SV detection.
Analysis of the first gapless human genome assembly and pangenome assemblies.
Classification of SVs and their generative mechanisms.

Main Results:

New genomic assemblies, including the first gapless human genome, provide insights into SV biology.
Third-generation sequencing technologies are crucial for resolving complex genomic loci.
Emerging SV technologies offer improved accuracy and localization capabilities.

Conclusions:

The study of human SVs is at a pivotal point due to technological breakthroughs.
New genomic approaches are expected to transform applications in population-scale genomics, clinical diagnostics, and public health.
Understanding SVs is critical for advancing human health research and applications.