Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Video

Updated: Jun 12, 2026

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

High-resolution human genome structure by single-molecule analysis.

Brian Teague¹, Michael S Waterman, Steven Goldstein

¹The Laboratory for Molecular and Computational Genomics, Department of Chemistry, Laboratory of Genetics and Biotechnology Center, University of Wisconsin, 425 Henry Mall, Madison, WI 53706-1580, USA.

Proceedings of the National Academy of Sciences of the United States of America

|June 11, 2010

Summary

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

Microbiological spectrum and probability of transmission of infection from ocular tissues of enucleated eyes harvested from septicemic donors.

World journal of transplantation·2026

Same author

Longitudinal, Retrospective Use of a Circulating Tumor DNA Methylation Signature Successfully Captures Small Cell Evolution in a Patient With Metastatic EGFR-Mutant Non-Small Cell Lung Cancer.

JCO precision oncology·2026

Same author

textToKnowledgeGraph: generation of molecular interaction knowledge graphs using large language models for exploration in Cytoscape.

Bioinformatics (Oxford, England)·2026

Same author

Enhancing statistical analysis of real world data.

Database : the journal of biological databases and curation·2025

Same author

Publisher Correction: Multimodal cell maps as a foundation for structural and functional genomics.

Nature·2025

Same author

textToKnowledgeGraph: Generation of Molecular Interaction Knowledge Graphs Using Large Language Models for Exploration in Cytoscape.

bioRxiv : the preprint server for biology·2025

Same journal

The TaMYB55-TaSnRK1α1-TabZIP9 module confers heat stress tolerance in wheat.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same journal

Superstatistics approach to turbulent circulation fluctuations.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same journal

A molecular timescale for evolution of cobamide biosynthesis.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same journal

Pierre Chambon, a pioneer of molecular biology and gene regulation in eukaryotes.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same journal

Granulosa cell glycogen fuels the avascular corpus luteum.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same journal

Synthetic essentiality of TRAIL/TNFSF10 in VHL-deficient renal cell carcinoma.

Proceedings of the National Academy of Sciences of the United States of America·2026

See all related articles

This summary is machine-generated.

Optical Mapping comprehensively characterizes human genome structure variation, identifying thousands of new genetic variants. This high-resolution single-molecule system advances understanding of genetic polymorphism

Area of Science:

Genomics
Human Genetics
Molecular Biology

Background:

Genome structure variation is a key source of human genetic polymorphism.
Existing methods incompletely characterize the broad range of structural variants.
Structural variants impact a large genomic proportion and have health implications.

Purpose of the Study:

To address the gap in comprehensive genome structure variation discovery.
To utilize Optical Mapping for high-throughput, high-resolution genome structure analysis.

Main Methods:

Employed Optical Mapping, a single-molecule system, for genome structure studies.
Generated genome-wide restriction maps from a complete hydatidiform mole and three cell lines.
Validated Optical Mapping concordance with existing genome analysis techniques.

More Related Videos

Deciphering High-Resolution 3D Chromatin Organization via Capture Hi-C

Deciphering High-Resolution 3D Chromatin Organization via Capture Hi-C

Published on: October 14, 2022

3D Multicolor DNA FISH Tool to Study Nuclear Architecture in Human Primary Cells

3D Multicolor DNA FISH Tool to Study Nuclear Architecture in Human Primary Cells

Published on: January 25, 2020

Related Experiment Videos

Last Updated: Jun 12, 2026

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 6, 2010

Deciphering High-Resolution 3D Chromatin Organization via Capture Hi-C

Deciphering High-Resolution 3D Chromatin Organization via Capture Hi-C

Published on: October 14, 2022

3D Multicolor DNA FISH Tool to Study Nuclear Architecture in Human Primary Cells

3D Multicolor DNA FISH Tool to Study Nuclear Architecture in Human Primary Cells

Published on: January 25, 2020

Main Results:

Demonstrated strong concordance between Optical Mapping and established methods.
Identified thousands of novel structural variants.
Detected variants across a wide size spectrum, from kilobases (kb) to megabases (Mb).

Conclusions:

Optical Mapping provides a powerful approach for comprehensive genome structure variation discovery.
The study identified numerous new variants, expanding the understanding of human genetic polymorphism.
This method offers a global, detailed view of structural variants relevant to health and disease.