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

Sanger Sequencing01:57

Sanger Sequencing

775.8K
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...
775.8K
Next-generation Sequencing03:00

Next-generation Sequencing

99.4K
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....
99.4K
RNA-seq03:21

RNA-seq

12.2K
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...
12.2K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

13.2K
In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
13.2K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.8K
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%...
18.8K

You might also read

Related Articles

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

Sort by
Same author

Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.

Pediatric surgery international·2026
Same author

Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.

International journal of cancer·2026
Same author

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Genome medicine·2026
Same author

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Nature genetics·2026
Same author

First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review.

Diseases (Basel, Switzerland)·2026
Same author

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.

Genome research·2026
Same journal

The Outcome of Cardiac Hydatid Surgery in The Iraqi Center of Heart Diseases.

F1000Research·2026
Same journal

Perception of body donation among the Phase-1 medical students, a questionnaire-based study.

F1000Research·2026
Same journal

Exploring Infertility in Saudi Arabia: Qualitative Insights into IVF Treatment Services and Policy Recommendations.

F1000Research·2026
Same journal

Cyber Military Operations under International Humanitarian Law: Interpreting the Concept of "Attack" and Challenges in Protecting Civilians.

F1000Research·2026
Same journal

Sentiment Analysis of Acceptance TVET Online Courses on the Skill Academy App from Google Play: Leveraging Text Mining with Comparison Machine Learning Model.

F1000Research·2026
Same journal

Emotional intelligence: An important skill to learn now more than ever.

F1000Research·2026
See all related articles

Related Experiment Video

Updated: Feb 25, 2026

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

1.4K

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

Jesper Eisfeldt1,2,3, Francesco Vezzi3,4, Pall Olason5

  • 1Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

F1000Research
|August 9, 2017
PubMed
Summary
This summary is machine-generated.

Detecting large structural variations using whole genome sequencing (WGS) is crucial for diagnosing genetic disorders. Current SV callers face challenges with benign variants and computational cost, limiting clinical diagnostic use.

Keywords:
Structural variationVariant callingWhole genome sequencing

More Related Videos

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

17.4K
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

15.8K

Related Experiment Videos

Last Updated: Feb 25, 2026

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

1.4K
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

17.4K
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

15.8K

Area of Science:

  • Genomics
  • Bioinformatics
  • Medical Genetics

Background:

  • Large structural variations (>1000 bp) are significant in genetic disorders.
  • Whole genome sequencing (WGS) enables comprehensive detection of genomic structural variants (SVs).
  • SV callers are widely used in research but limited in routine clinical diagnostics.

Purpose of the Study:

  • To address the challenges in SV detection for clinical diagnostics.
  • To evaluate SV callers for comprehensive SV detection at low computational cost.

Main Methods:

  • Utilizing whole genome sequencing (WGS) data.
  • Employing various SV callers to analyze genomic data.
  • Assessing SV detection accuracy and computational efficiency.

Main Results:

  • SV callers face challenges due to benign variants and reference errors.
  • Limited number of SV callers efficiently detect the full spectrum of SVs.
  • Computational cost remains a barrier for widespread clinical adoption.

Conclusions:

  • Improving SV detection methods is essential for clinical diagnostics.
  • Further development of efficient and accurate SV callers is needed.
  • Addressing reference errors and benign variants is critical for reliable SV analysis.