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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

You might also read

Related Articles

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

Sort by
Same author

N-MIX: an in silico framework for predicting ADAM10-mediated substrate cleavage sites through structural and spatial analysis of protease-substrate interactions.

Scientific reports·2026
Same author

Machine Learning Reveals the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population.

Circulation. Genomic and precision medicine·2026
Same author

Trimethylamine-producing microbe Bacillus megaterium KCTC 3007 promotes antitumor immunity in endometrial cancer via type I interferon response pathways.

Microbiome·2026
Same author

Simulation-guided design of peptide-metal coordination interfaces for next-generation metallo-immunotherapy.

Nano convergence·2026
Same author

<i>Lactobacillus delbrueckii</i> subsp. <i>lactis</i> CKDB001 Ameliorates Scopolamine-Induced Cognitive Impairment Through Metabolic Modulation.

International journal of molecular sciences·2025
Same author

Functional Expansion of the Skin Microbiome: A Pantothenate-Producing <i>Rothia</i> Strain Confers Anti-Inflammatory and Photoaging-Protective Effects.

International journal of molecular sciences·2025

Related Experiment Video

Updated: Jun 9, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Reference-unbiased copy number variant analysis using CGH microarrays.

Young Seok Ju1, Dongwan Hong, Sheehyun Kim

  • 1Genomic Medicine Institute, Medical Research Center, Seoul National University, Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul 110-799, Korea.

Nucleic Acids Research
|August 31, 2010
PubMed
Summary

A new algorithm, CARA, accurately detects copy number variations (CNVs) without reference bias. This method improves comparative genomic hybridization (CGH) array data analysis for personalized medicine.

More Related Videos

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Related Experiment Videos

Last Updated: Jun 9, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Area of Science:

  • Genomics
  • Molecular Biology

Background:

  • Comparative genomic hybridization (CGH) microarrays are crucial for identifying copy number variations (CNVs) linked to complex diseases.
  • A significant challenge in CGH array experiments is the accurate detection of absolute CNVs, free from reference sample genomic variations.

Purpose of the Study:

  • To develop a novel algorithm for reference-unbiased absolute CNV detection from CGH array data.
  • To enhance the accuracy of CGH array experiments by mitigating reference sample effects.

Main Methods:

  • Whole genome analysis using ultra-high resolution CGH arrays and massively parallel sequencing to catalog reference DNA (NA10851) variants.
  • Development of the CGH array reference-free algorithm (CARA) utilizing identified genomic variants.
  • Implementation of CARA to remove false positive and rescue false negative CNVs caused by reference sample variations.

Main Results:

  • The CARA algorithm successfully determines reference-unbiased absolute CNVs across different CGH array platforms.
  • CARA significantly reduces false positive and false negative CNV calls originating from reference sample genomic variants.
  • A remarkable enhancement in the accuracy of absolute CNV determination using CGH arrays was achieved.

Conclusions:

  • CARA offers a robust solution to the critical issue of reference bias in CGH array experiments.
  • The algorithm provides a new, highly accurate approach for interpreting CGH array data.
  • This advancement holds significant potential for applications in personalized medicine through improved genomic variant analysis.