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

11.4K
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%...
11.4K
RNA-seq03:21

RNA-seq

9.2K
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...
9.2K
Sanger Sequencing01:57

Sanger Sequencing

800.3K
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...
800.3K
Genome Copying Errors02:46

Genome Copying Errors

4.2K
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.
4.2K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.3K

You might also read

Related Articles

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

Sort by
Same author

The comet assay as a tool for human biomonitoring of exposure to environmental and occupational agents - A summary of systematic reviews and meta-analyses.

Mutation research. Reviews in mutation research·2026
Same author

Integrated multi-omic profiling reveals two distinct splenic marginal zone lymphoma subgroups with prognostic relevance.

Blood advances·2026
Same author

A Landscape Analysis of Human SUMOylation.

Molecular & cellular proteomics : MCP·2026
Same author

Perceptions of the Likelihood and Importance of Physical Activity Outcomes at 14 Years Affects Physical Fitness at 17 Years.

Child: care, health and development·2026
Same author

Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort.

Journal of human genetics·2026
Same author

The comet assay as a tool in human biomonitoring exposure to antineoplastic drugs - A systematic review and meta-analysis.

Mutation research. Reviews in mutation research·2026
Same journal

SA-MTP: a structure-aware framework for multifunctional therapeutic peptide annotation.

Briefings in bioinformatics·2026
Same journal

Genome assemblies and annotations are not static and need support for tracking their evolution.

Briefings in bioinformatics·2026
Same journal

A historical journey of metabolite-protein interaction discovery: from data harmonization to AI-driven prediction.

Briefings in bioinformatics·2026
Same journal

Bridging local-global transmembrane protein contexts with contrastive pretraining for alignment-free pathogenicity prediction.

Briefings in bioinformatics·2026
Same journal

Prediction of drug hypersensitivity by comprehensive modeling of HLA-peptidomes.

Briefings in bioinformatics·2026
Same journal

EssTFNet: integration of adaptive time-frequency and DNA language models for interpretable human essential gene prediction.

Briefings in bioinformatics·2026
See all related articles

Related Experiment Video

Updated: Apr 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

12.6K

Exome sequence read depth methods for identifying copy number changes.

Latha Kadalayil, Sajjad Rafiq, Matthew J J Rose-Zerilli

    Briefings in Bioinformatics
    |August 30, 2014
    PubMed
    Summary
    This summary is machine-generated.

    Copy number variants (CNVs) are crucial in human diseases. This study evaluates whole exome sequencing (WES) methods for CNV detection, offering a streamlined approach for clinical applications.

    Keywords:
    chronic lymphocytic leukaemiacopy number variantsdepth of coveragelikelihood ratiowhole exome sequencing

    More Related Videos

    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

    2.1K
    Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
    11:02

    Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

    Published on: October 18, 2013

    19.0K

    Related Experiment Videos

    Last Updated: Apr 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

    12.6K
    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

    2.1K
    Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
    11:02

    Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

    Published on: October 18, 2013

    19.0K

    Area of Science:

    • Genomics
    • Bioinformatics
    • Medical Genetics

    Background:

    • Copy number variants (CNVs) are significant in human diseases and pharmacogenetics.
    • Whole genome sequencing (WGS) offers powerful CNV detection but is expensive.
    • Whole exome sequencing (WES) is a cost-effective alternative for detecting CNVs in coding regions.

    Purpose of the Study:

    • To review and analyze exome-based CNV detection methods.
    • To identify factors contributing to performance discrepancies among exome CNV callers.
    • To present a standardized strategy for comparing exome CNV detection methods.

    Main Methods:

    • Review of exome CNV detection algorithms based on read depth profiles.
    • Streamlined comparison strategy using the likelihood ratio metric.
    • Validation using paired normal and tumor exome data from chronic lymphocytic leukemia patients and array-based somatic CNV calls.

    Main Results:

    • Identified issues contributing to inconsistent results in exome CNV detection studies.
    • Demonstrated the utility of the likelihood ratio for comparing VarScan 2 and XHMM.
    • Calculated prevalence-independent statistics (sensitivity, specificity, likelihood ratio) for exome-derived somatic CNVs (SCNVs).

    Conclusions:

    • Exome-derived CNVs, when validated, hold potential for clinical use.
    • The likelihood ratio provides a robust metric for comparing exome CNV detection tools.
    • Accounting for CNV size and frequency is essential for accurate performance assessment of WES-based CNV detection.