Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Comparing Copy Number Variations and SNPs

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%...

You might also read

Related Articles

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

Sort by

Same author

Biobank-scale genotype similarity search and dynamic patient-matched cohort creation with GenoSiS.

Genome research·2026

Same author

The effects of biological knowledge graph topology on classical embedding-based link prediction.

BMC bioinformatics·2026

Same author

Population-scale interpretation of RNA isoform diversity enabled by Isopedia.

bioRxiv : the preprint server for biology·2026

Same author

TEPEAK: A novel method for identifying and characterizing polymorphic transposable elements in non-model species populations.

PLoS computational biology·2026

Same author

HIP Surgical Techniques to Enhance Rehabilitation (HIPSTER) : a single-centre, double-blind, parallel three-arm, randomized-controlled, superiority trial.

Bone & joint open·2025

Same author

Biologically inspired graphs to explore massive genetic datasets.

Nature computational science·2025

Search research articles

Related Experiment Video

Updated: May 24, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Rapid, Reliable, and Interpretable Copy Number Variant Curation Visualizations for Diagnostic Settings with SeeNV.

Michael S Bradshaw¹, Jishnu Raychaudhuri¹, Lachlan Murphy¹

¹Department of Computer Science, University of Colorado Boulder, Boulder, Colorado.

The Journal of Molecular Diagnostics : JMD

|March 5, 2025

Summary

SeeNV is a new tool that helps researchers quickly and accurately check copy number variants (CNVs) found using whole-exome sequencing. This automation improves the reliability of genetic variant analysis in clinical diagnostics.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Related Experiment Videos

Last Updated: May 24, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Area of Science:

Genomics
Bioinformatics
Clinical Diagnostics

Background:

Copy number variants (CNVs) are significant genomic alterations linked to various diseases.
Accurate CNV identification is challenging with whole-exome sequencing (WES) due to technical noise.
Manual curation of CNV calls is time-consuming and prone to errors.

Purpose of the Study:

To introduce SeeNV, a command-line tool designed to streamline manual curation of CNVs.
To improve the efficiency and accuracy of CNV assessment in clinical settings.
To facilitate large-scale CNV analysis using WES data.

Main Methods:

SeeNV generates static infographics for each CNV.
Infographics include sample/cohort sequencing coverage and population frequency data.
The tool was validated using publicly available WES and whole-genome sequencing data.

Main Results:

SeeNV enables rapid CNV curation, averaging 4.3 seconds per call.
Achieved high analytical sensitivity (0.95 recall) and good positive predictive value (0.74 precision).
The tool aids in precise assessment of CNV calls.

Conclusions:

SeeNV effectively addresses the challenges of manual CNV curation from WES data.
The tool enhances the speed and reliability of CNV analysis in diagnostic laboratories.
SeeNV is freely available, promoting wider adoption in genomic research and diagnostics.