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

DNA Base Pairing02:27

DNA Base Pairing

33.6K
Erwin Chargaff’s rules on DNA equivalence paved the way for the discovery of base pairing in DNA. Chargaff’s rules state that in a double-stranded DNA molecule,
33.6K
DNA Base Pairing02:27

DNA Base Pairing

32.9K
32.9K
DNA as a Genetic Template02:05

DNA as a Genetic Template

27.9K
Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
27.9K
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

11.9K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
11.9K
From DNA to Protein03:06

From DNA to Protein

22.5K
The flow of genetic information in cells from DNA to mRNA to protein is described by the central dogma, which states that genes specify the sequence of mRNAs, which in turn specify the sequence of amino acids making up all proteins. The decoding of one molecule to another is performed by specific proteins and RNAs. Because the information stored in DNA is so central to cellular function, it makes intuitive sense that the cell would make mRNA copies of this information for protein synthesis...
22.5K
Base-pairing and DNA Repair02:27

Base-pairing and DNA Repair

93.6K
93.6K

You might also read

Related Articles

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

Sort by
Same author

Correction: Comparing Xenium 5K and Visium HD data from identical tissue slide at a pathological perspective.

Journal of experimental & clinical cancer research : CR·2026
Same author

Evaluating sequence-to-function deep learning models for ancestry-stratified regulatory variant effect prediction using multi-ancestry blood eQTLs.

bioRxiv : the preprint server for biology·2026
Same author

A TAD-informed aging-brain xQTL atlas of multi-modal and cell-type-resolved regulatory variation.

medRxiv : the preprint server for health sciences·2026
Same author

Visual search behavior and decision-making in expert and less-experienced football referees across different foul situations: an eye-tracking study.

Frontiers in psychology·2026
Same author

Risk factors and outcomes of HPH in high-altitude residents via echocardiographic evaluation.

BMC cardiovascular disorders·2026
Same author

Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.

medRxiv : the preprint server for health sciences·2026

Related Experiment Video

Updated: Feb 8, 2026

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites
09:31

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites

Published on: March 22, 2016

18.4K

Integrative DNA copy number detection and genotyping from sequencing and array-based platforms.

Zilu Zhou1, Weixin Wang2, Li-San Wang2

  • 1Graduate Group in Genomics and Computational Biology.

Bioinformatics (Oxford, England)
|July 12, 2018
PubMed
Summary

The integrated CNV (iCNV) algorithm effectively combines DNA copy number variation data from sequencing and SNP arrays, improving accuracy and robustness. Allele-specific reads further enhance detection in whole genome sequencing analyses.

More Related Videos

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
09:32

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

Published on: November 8, 2017

8.2K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

Related Experiment Videos

Last Updated: Feb 8, 2026

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites
09:31

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites

Published on: March 22, 2016

18.4K
An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
09:32

An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants

Published on: November 8, 2017

8.2K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Copy number variations (CNVs) are DNA alterations linked to various diseases.
  • Large genetic studies increasingly use whole exome sequencing (WES) and whole genome sequencing (WGS) for CNV analysis.
  • Combining WES/WGS data with existing SNP-array data can enhance CNV detection accuracy, but lacks integrated tools.

Purpose of the Study:

  • To develop an integrated statistical framework, iCNV, for robust CNV detection across multiple platforms (WES, WGS, SNP arrays).
  • To improve CNV detection accuracy by utilizing allele-specific reads from sequencing data.
  • To evaluate the performance of iCNV against existing methods and naive data integration approaches.

Main Methods:

  • Developed the iCNV algorithm, a statistical framework for integrated CNV detection.
  • Implemented platform-specific normalization and utilized allele-specific reads.
  • Integrated next-generation sequencing (NGS) and SNP-array data using a hidden Markov model.

Main Results:

  • iCNV demonstrates increased sensitivity and robustness in integrated two-platform CNV detection compared to simple union or intersection methods.
  • On whole genome sequencing data alone, iCNV shows improved accuracy by leveraging allele-specific reads.
  • The iCNV algorithm supports diverse study designs, including WES-only, WGS-only, SNP array-only, or combined data.

Conclusions:

  • The iCNV algorithm provides a versatile and accurate solution for CNV detection across different genomic platforms.
  • Integrating data from multiple platforms and utilizing allele-specific reads are crucial for advancing CNV analysis.
  • iCNV offers a valuable tool for genetic association studies seeking to improve the resolution and accuracy of CNV detection.