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 Concept Videos

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

You might also read

Related Articles

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

Sort by
Same author

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

BMC pediatrics·2026
Same author

Impact of Depiction of Brown Adipose Tissue (BAT) in Baseline FDG PET/CT on Progression-free Survival in Lymphoma Patients.

Asian Pacific journal of cancer prevention : APJCP·2026
Same author

Management of Chronic Subdural Hematoma With Adjunctive Embolization of Middle Meningeal Artery: The EMMA-Can Randomized Clinical Trial.

JAMA·2026
Same author

The Evolution of Organoids: From Discovery to Cutting-Edge Applications.

Stem cell reviews and reports·2026
Same author

Quality Issues in Medical Genetics Laboratories: "What a Clinician Needs to Know?"

Indian journal of pediatrics·2026
Same author

Comparison of bilirubin albumin ratio and total serum bilirubin for predicting neurological dysfunction in newborns: A meta-analysis.

World journal of clinical pediatrics·2026

Related Experiment Video

Updated: May 12, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Integrative approach for delineating structural variants using optical genome mapping and long-read genome

Usha R Dutta1, Kritika Ramgopal2, N Divya Bhanu2

  • 1Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Inner Ring Road, Uppal, Hyderabad, Telangana, 500 039, India. ushadutta@hotmail.com.

Molecular Biology Reports
|May 11, 2026
PubMed
Summary

Combining optical genome mapping (OGM) and long-read sequencing (LRS) precisely detects complex structural variants (SVs) missed by standard methods. This integrated approach enhances diagnostic yield for genetic disorders.

Keywords:
Breakpoint mappingChromosomal rearrangementsLong-read sequencingOptical genome mappingStructural variants

More Related Videos

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Determining if DNA Stained with a Cyanine Dye Can Be Digested with Restriction Enzymes
06:58

Determining if DNA Stained with a Cyanine Dye Can Be Digested with Restriction Enzymes

Published on: February 2, 2018

Related Experiment Videos

Last Updated: May 12, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Determining if DNA Stained with a Cyanine Dye Can Be Digested with Restriction Enzymes
06:58

Determining if DNA Stained with a Cyanine Dye Can Be Digested with Restriction Enzymes

Published on: February 2, 2018

Area of Science:

  • Genomics
  • Human Genetics

Background:

  • Structural variants (SVs) are significant contributors to human genetic disorders.
  • Traditional cytogenetic and short-read sequencing methods often fail to fully resolve complex SVs.
  • Long-read sequencing (LRS) and optical genome mapping (OGM) offer advanced capabilities for SV detection.

Purpose of the Study:

  • To evaluate the combined utility of OGM and LRS for precise characterization of clinically relevant chromosomal rearrangements.
  • To assess the diagnostic yield of an integrated OGM and LRS approach for complex SVs.

Main Methods:

  • Investigated five patients with suspected chromosomal abnormalities using standard methods (karyotyping, FISH, CMA, TP-PCR).
  • Applied integrative analysis with OGM and LRS for comprehensive SV detection.
  • Compared the resolution capabilities of OGM and LRS for various types of structural variants.

Main Results:

  • OGM identified genome-wide structural insights, while LRS provided nucleotide-level breakpoint resolution.
  • The combined approach successfully delineated complex SVs, including insertions, translocations, inversions, microdeletions, and fusions, in five patients.
  • Novel rearrangements were identified in four out of five cases, demonstrating the power of this integrated strategy.

Conclusions:

  • The combined application of OGM and LRS enables comprehensive characterization of complex SVs.
  • This integrative approach significantly improves diagnostic yield for patients with genetic disorders.
  • The findings support the implementation of OGM and LRS in clinical settings for SV detection and genotype-phenotype correlation.