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...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.

You might also read

Related Articles

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

Sort by
Same author

Evaluation of surrogate endpoints for survival outcomes using the surrogate package in R.

Computer methods and programs in biomedicine·2026
Same author

Integrated multi-omics identifies distinct macrophage alterations during progression of metabolic dysfunction-associated steatohepatitis.

Nature genetics·2026
Same author

Transcriptomic profiling across stages of non-muscle-invasive bladder cancer identifies fibroblast activation protein-alpha as a stromal biomarker associated with progression.

Molecular medicine (Cambridge, Mass.)·2026
Same author

Longitudinal cell-free DNA methylome and fragmentome profiles in health uncover signatures of cell type and demographic origin.

Genome medicine·2026
Same author

WiNGS-API: a federated genome/phenome data sharing platform enabling gene discovery and variant classification for rare diseases.

Genome medicine·2026
Same author

Modeling <i>cis</i>-regulatory variation in human brain enhancers across a large Parkinson's Disease cohort.

bioRxiv : the preprint server for biology·2026
Same journal

iMUT-seq mapping of DSB-induced mutations with high sensitivity at single-nucleotide resolution.

Nature protocols·2026
Same journal

An assay to quantify sexual commitment and stage conversion in the human malaria parasite Plasmodium falciparum.

Nature protocols·2026
Same journal

Author Correction: Direct inoculation of bioreactor-controlled stirred suspension culture with cryopreserved human pluripotent stem cells.

Nature protocols·2026
Same journal

High-throughput measurements of protein domain functions using magnetic separation.

Nature protocols·2026
Same journal

Inducing physiological polarity and performing gene editing using CRISPR-Cas9 in human trophoblast organoids.

Nature protocols·2026
Same journal

Photocatalytic low-temperature defluorination of PTFE.

Nature protocols·2026
See all related articles

Related Experiment Video

Updated: May 25, 2026

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

Microarray analysis of copy number variation in single cells.

Peter Konings1, Evelyne Vanneste, Sigrun Jackmaert

  • 1Department of Electrical Engineering, Katholieke Universiteit Leuven, Leuven, Belgium.

Nature Protocols
|January 21, 2012
PubMed
Summary
This summary is machine-generated.

This study introduces a reliable protocol for detecting DNA copy number aberrations in single human cells. The method minimizes false positives and assesses data quality for accurate genetic variant analysis.

More Related Videos

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

Counting Proteins in Single Cells with Addressable Droplet Microarrays
12:25

Counting Proteins in Single Cells with Addressable Droplet Microarrays

Published on: July 6, 2018

Related Experiment Videos

Last Updated: May 25, 2026

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

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

Counting Proteins in Single Cells with Addressable Droplet Microarrays
12:25

Counting Proteins in Single Cells with Addressable Droplet Microarrays

Published on: July 6, 2018

Area of Science:

  • Genomics
  • Molecular Biology
  • Cell Biology

Background:

  • Detecting DNA copy number aberrations in single cells is challenging due to whole-genome amplification (WGA) artifacts.
  • Existing methods often struggle with accurate validation for segmental DNA imbalance detection.
  • Reliable single-cell analysis is crucial for understanding genetic variations.

Purpose of the Study:

  • To present a robust protocol for detecting DNA copy number aberrations in individual human cells.
  • To improve the accuracy of variant calling and enable uniparental isodisomy detection.
  • To provide a quality assessment for single-cell WGA samples.

Main Methods:

  • Hybridization of multiple displacement-amplified DNAs to bacterial artificial chromosome (BAC) and Affymetrix SNP arrays.
  • Integration of BAC probe copy number probabilities with SNP copy number and loss-of-heterozygosity states.
  • Utilizing hidden Markov models (HMM) and a WGA reference model for copy number calling.

Main Results:

  • The protocol reliably detects DNA copy number aberrations in single human cells.
  • It minimizes false-positive variant calling compared to other methods.
  • Uniparental isodisomy detection and quality assessment of WGA samples are enabled.

Conclusions:

  • This protocol offers a reliable and validated approach for single-cell DNA copy number aberration detection.
  • It addresses limitations of previous methods by reducing false positives and improving accuracy.
  • The protocol facilitates high-quality genomic analysis at the single-cell level.