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

Genetic Variation01:25

Genetic Variation

357
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
357
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.0K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
14.0K
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

19.2K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
19.2K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.9K
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%...
17.9K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.6K
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,...
15.6K
Genetic Screens02:46

Genetic Screens

5.0K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.0K

You might also read

Related Articles

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

Sort by
Same author

Metagenomic analysis of goat feces from Ogliastra (Sardinia, Italy).

Frontiers in microbiomes·2026
Same author

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

International journal of molecular sciences·2025
Same author

Somatic Double Inactivation of <i>NF1</i> Associated with NF1-Related Pectus Excavatum Deformity.

Human mutation·2025
Same author

CompàreGenome: a command-line tool for genomic diversity estimation in prokaryotes and eukaryotes.

BMC bioinformatics·2025
Same author

Comparison of Analgesia Methods Through a Web Platform in Patients Undergoing Thoracic Surgery: Pilot Design, Implementation, and Validation Study.

JMIR formative research·2024
Same author

A Novel Affordable and Reliable Framework for Accurate Detection and Comprehensive Analysis of Somatic Mutations in Cancer.

International journal of molecular sciences·2024

Related Experiment Video

Updated: Aug 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

33.9K

VariantAlert: A web-based tool to notify updates in genetic variant annotations.

Rossano Atzeni1, Matteo Massidda1, Giorgio Fotia1

  • 1Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy.

Human Mutation
|October 27, 2022
PubMed
Summary
This summary is machine-generated.

VariantAlert is a web tool that automatically re-annotates genetic variants daily. It notifies researchers and clinicians of annotation changes from multiple databases, aiding variant reinterpretation.

Keywords:
clinical geneticsrare diseasesvariant annotationvariant reinterpretationvariants of uncertain significance

More Related Videos

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.7K
Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
08:46

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Published on: August 26, 2020

4.9K

Related Experiment Videos

Last Updated: Aug 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

33.9K
Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.7K
Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
08:46

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Published on: August 26, 2020

4.9K

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Variant annotation requires continuous reinterpretation as new data emerges.
  • Manual tracking of variant annotation updates from diverse sources is time-consuming for researchers and clinicians.

Purpose of the Study:

  • To develop an automated system, VariantAlert, for monitoring and notifying users about changes in genetic variant annotations.
  • To streamline the process of variant reclassification by providing timely updates from multiple external databases.

Main Methods:

  • VariantAlert utilizes an application programming interface (API) to access and re-annotate variants daily.
  • It integrates data from multiple sources including gnomAD, COSMIC, ClinVar, and CIViC via MyVariant.info.
  • Users receive email notifications upon detected annotation changes, with updated information stored on the website.

Main Results:

  • VariantAlert successfully provides daily re-annotation of user-submitted variant lists.
  • The system effectively detects and reports changes in variant annotations, such as allele frequencies and clinical classifications.
  • Automated notifications ensure researchers and clinicians stay informed about critical updates.

Conclusions:

  • VariantAlert offers an efficient, automated solution for managing and reinterpreting genetic variant annotations.
  • The tool enhances the accuracy and timeliness of variant classification, supporting research and clinical decision-making.
  • Easy deployment via Docker and availability as a web service promote widespread adoption.