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

800.8K
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...
800.8K
RNA-seq03:21

RNA-seq

9.4K
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...
9.4K
Next-generation Sequencing03:00

Next-generation Sequencing

87.9K
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....
87.9K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.6K
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%...
11.6K

You might also read

Related Articles

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

Sort by
Same author

Prognostic impact of weight loss during first-line chemotherapy in extensive-disease small cell lung cancer.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer·2026
Same author

M-Sec promotes the production of infectious HIV-1 virus through the exocyst complex in macrophages.

PLoS pathogens·2026
Same author

The gp120 Envelope Glycoprotein of HIV-1 Triggers Macropinocytosis in Primary CD4+ T Cells to Promote HIV-1 Infection.

bioRxiv : the preprint server for biology·2026
Same author

Efficacy of Docetaxel Plus Ramucirumab for Malignant Pleural Effusion and Cerebral Edema in Patients With Advanced Non-Small Cell Lung Cancer: A Single-Institution Retrospective Study.

Thoracic cancer·2026
Same author

Weight change and impact on prognosis in patients with advanced non-small cell lung cancer with concomitant diabetes mellitus treated with sglt2 inhibitors.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer·2026
Same author

Efficacy of Osimertinib in Patients With Postoperative Recurrent Non-Small-Cell Lung Cancer Harboring Sensitizing EGFR Mutations.

Thoracic cancer·2026

Related Experiment Video

Updated: May 2, 2026

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

16.5K

iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data.

Takahiro Mimori, Naoki Nariai, Kaname Kojima

    BMC Systems Biology
    |February 26, 2014
    PubMed
    Summary
    This summary is machine-generated.

    Accurate detection of structural variations (SVs) in human genomes is challenging. This study introduces iSVP, an integrated pipeline for precise deletion calling, achieving over 90% precision and recall in whole-genome sequencing data.

    More Related Videos

    Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes
    05:07

    Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes

    Published on: November 7, 2025

    560
    Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example
    05:45

    Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example

    Published on: March 11, 2020

    10.9K

    Related Experiment Videos

    Last Updated: May 2, 2026

    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

    16.5K
    Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes
    05:07

    Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes

    Published on: November 7, 2025

    560
    Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example
    05:45

    Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example

    Published on: March 11, 2020

    10.9K

    Area of Science:

    • Genomics
    • Bioinformatics
    • Human Genetics

    Background:

    • Structural variations (SVs) are common in human genomes and linked to diseases.
    • Accurate, genome-wide SV detection using next-generation sequencing (NGS) remains a challenge.
    • Existing SV calling algorithms have diverse strategies and limitations in detecting the full spectrum of SVs.

    Purpose of the Study:

    • To evaluate the performance of existing deletion calling algorithms.
    • To develop an integrated structural variant calling pipeline (iSVP) for accurate deletion detection.
    • To analyze genome-wide deletion landscapes in human whole-genome sequencing data.

    Main Methods:

    • Performance evaluation of deletion calling algorithms using simulated data with artificial SVs.
    • Generation of simulation data based on variant distributions from the 1000 Genomes Project.
    • Development of iSVP by integrating existing methods with novel filtering and merging processes.

    Main Results:

    • Deletion calling performance varied significantly among algorithms and deletion sizes.
    • iSVP achieved >90% precision and >90% recall for deletion calling on 30× coverage data.
    • Application of iSVP to CEU HapMap data revealed numerous deletions, including those associated with Alus and long interspersed nuclear elements.

    Conclusions:

    • iSVP provides a highly accurate method for genome-wide deletion calling.
    • The pipeline is broadly applicable to human whole-genome sequencing data.
    • iSVP will aid in understanding the relationships between SVs, diseases, and biological functions.