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%...
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

Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

Nature communications·2025
Same author

An integrated omics approach highlights how epigenetic events can explain and predict response to neoadjuvant chemotherapy and bevacizumab in breast cancer.

Molecular oncology·2024
Same author

A <i>PRRX1</i> Signature Identifies TIM-3 and VISTA as Potential Immune Checkpoint Targets in a Subgroup of Microsatellite Stable Colorectal Cancer Liver Metastases.

Cancer research communications·2023
Same author

Cis-regulatory mutations associate with transcriptional and post-transcriptional deregulation of gene regulatory programs in cancers.

Nucleic acids research·2022
Same author

Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

Breast cancer research : BCR·2022
Same author

Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3<sup>VNTR</sup> polymorphisms and gene co-expression.

NPJ breast cancer·2021
Same journal

Mild oxidative stress and dietary epigenetic modulators direct DNA methylation remodeling toward stress-resilience pathways.

BMC genomics·2026
Same journal

Integrative ATAC-Seq and RNA-Seq analysis identifies key genes for intramuscular fat content in Laiwu pigs.

BMC genomics·2026
Same journal

A comprehensive long RNA landscape of multi-regional porcine lung-derived small extracellular vesicles.

BMC genomics·2026
Same journal

pGWAS-Portal: a comprehensive online platform for integrative post-genome-wide association study analysis.

BMC genomics·2026
Same journal

Physiological and transcriptomic analyses of Rosa persica in response to drought stress and functional validation of the transcription factor RpERF113-like.

BMC genomics·2026
Same journal

Integrated analysis of chromatin accessibility and transcriptome profiles in granulosa cells of sheep with different FecB genotypes.

BMC genomics·2026
See all related articles

Related Experiment Video

Updated: May 13, 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

Copynumber: Efficient algorithms for single- and multi-track copy number segmentation.

Gro Nilsen1, Knut Liestøl, Peter Van Loo

  • 1Biomedical Informatics, Dept of Informatics, University of Oslo, Oslo, Norway.

BMC Genomics
|February 28, 2013
PubMed
Summary
This summary is machine-generated.

This study introduces the R package copynumber, a unified software suite for analyzing genomic copy number data. It provides efficient segmentation algorithms for single and multiple samples, improving cancer progression research.

More Related Videos

Serum and Plasma Copy Number Detection Using Real-time PCR
09:21

Serum and Plasma Copy Number Detection Using Real-time PCR

Published on: December 15, 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: May 13, 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

Serum and Plasma Copy Number Detection Using Real-time PCR
09:21

Serum and Plasma Copy Number Detection Using Real-time PCR

Published on: December 15, 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
  • Bioinformatics
  • Computational Biology

Background:

  • Genomic instability and DNA copy number alterations are hallmarks of cancer progression.
  • Diverse tools for genomic copy number measurement necessitate a unified analysis framework.
  • High-density genomic data requires computationally efficient segmentation algorithms.

Purpose of the Study:

  • To present a comprehensive Bioconductor package for copy number analysis.
  • To offer a unified framework for single, multi-sample, and multi-track segmentation.
  • To introduce a novel, computationally efficient segmentation algorithm.

Main Methods:

  • Utilizes statistically sound penalized least squares principles for segmentation.
  • Employs a novel algorithm leveraging vector-based operations in R for high computational efficiency.
  • Provides a coherent framework for handling single- and multi-track segmentation problems.

Main Results:

  • The copynumber package offers a unified approach to copy number segmentation.
  • The proposed algorithm demonstrates high computational efficiency for dense genomic data.
  • The package is validated through three case studies.

Conclusions:

  • The R package copynumber is a versatile software suite for copy number data segmentation.
  • It employs coherent least squares principles for robust analysis.
  • Facilitates advanced analysis of genomic copy number variations.