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

RNA-seq03:21

RNA-seq

10.5K
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...
10.5K
Sanger Sequencing01:57

Sanger Sequencing

760.1K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
760.1K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.0K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.0K
Next-generation Sequencing03:00

Next-generation Sequencing

93.4K
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....
93.4K

You might also read

Related Articles

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

Sort by
Same author

Telomere-driven replicative crisis is driven by large-scale changes in genomic architecture.

Genome research·2026
Same author

High-risk molecular features may eclipse genomic complexity in predicting chronic lymphocytic leukemia outcomes; UK clinical trial insights.

Leukemia·2026
Same author

Mitotic microhomology-mediated break-induced replication promotes chromoanasynthesis.

Nature communications·2026
Same author

GW: ultra-fast chromosome-scale visualization of genomics data.

Nature methods·2025
Same author

A novel TERT variant associated with a telomere biology disorder and challenges in variant classification.

EJHaem·2025
Same author

Telomere length and DNA methylation epitype both provide independent prognostic information in CLL patients; data from the UK CLL4, ARCTIC and ADMIRE clinical trials.

British journal of haematology·2024
Same journal

Correction to 'scSuperAnnotator: A platform for benchmarking comparison and visualizing automated cellular annotation methods for scRNA-seq data'.

Nucleic acids research·2026
Same journal

Correction to 'Differentiable partition function calculation for RNA'.

Nucleic acids research·2026
Same journal

Deployment of non-canonical splicing in tunicate genomes is mediated by divergent U2AF function and changing m6A modification in U1 and U6 snRNA.

Nucleic acids research·2026
Same journal

Bacillus subtilis DnaB forms multiple protein-protein interactions essential for DNA replication initiation.

Nucleic acids research·2026
Same journal

Multiple forms of protein-protein and DNA binding are exhibited by BrxC from the BREX phage restriction system.

Nucleic acids research·2026
Same journal

Biosynthesis of glycosylated 5-hydroxycytosine in the DNA of diverse viruses.

Nucleic acids research·2026
See all related articles

Related Experiment Video

Updated: Oct 5, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

1.1K

Dysgu: efficient structural variant calling using short or long reads.

Kez Cleal1, Duncan M Baird1

  • 1Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

Nucleic Acids Research
|January 31, 2022
PubMed
Summary
This summary is machine-generated.

Dysgu accurately detects structural variations (SVs) and indels using paired-end or long reads. This fast, precise tool offers competitive performance, even with combined low-coverage sequencing data.

More Related Videos

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.4K
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.0K

Related Experiment Videos

Last Updated: Oct 5, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

1.1K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.4K
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.0K

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Structural variations (SVs) are crucial in genome evolution and disease, including cancer.
  • Long-read sequencing enhances SV characterization, but paired-end sequencing offers scalability.
  • Accurate detection of SVs and indels remains a challenge in genomic analysis.

Purpose of the Study:

  • To introduce dysgu, a novel tool for detecting structural variations (SVs) and indels.
  • To evaluate dysgu's performance using both paired-end and long-read sequencing data.
  • To compare dysgu against existing state-of-the-art SV detection tools.

Main Methods:

  • Dysgu analyzes alignment gaps, discordant, and supplementary mappings.
  • It generates consensus contigs and employs machine learning for event classification.
  • Remapping of anomalous sequences aids in identifying additional SVs.

Main Results:

  • Dysgu demonstrates superior performance over existing tools for both paired-end and long-read data.
  • The tool achieves high sensitivity and precision in SV and indel detection.
  • Dysgu is among the fastest available tools for SV calling.

Conclusions:

  • Dysgu provides a scalable and accurate solution for structural variation and indel detection.
  • Combining low-coverage paired-end and long-reads offers a competitive alternative to high-coverage long-reads.
  • Dysgu advances the field of genomic variation analysis, with implications for disease research.