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

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

79
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
79
Pleiotropy01:33

Pleiotropy

43.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.9K
Genetic Variation01:25

Genetic Variation

1.5K
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,...
1.5K
Multiple Allele Traits01:49

Multiple Allele Traits

38.6K
The Concept of Multiple Allelism
38.6K
Multiple Allele Traits01:49

Multiple Allele Traits

14.8K
14.8K
Variability: Analysis01:11

Variability: Analysis

618
Measures of variability are statistical metrics that reveal the dispersion pattern within a dataset. They are pivotal in biostatistics, providing insights into the heterogeneity within health and biological data. Variability signifies the degree to which data points diverge from one another, helping researchers understand the potential range of values and associated uncertainty within the data.
The range is a simple measure of variability, indicating the difference between the highest and...
618

You might also read

Related Articles

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

Sort by
Same author

OmicsPred as a centralised resource for genetic prediction of multi-omic traits.

medRxiv : the preprint server for health sciences·2026
Same author

Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.

Journal of molecular biology·2026
Same author

Genomics and Adult Cardiovascular Emergencies: A Primer for Emergency Medicine Clinicians.

Emergency medicine Australasia : EMA·2025
Same author

Ensembl 2026.

Nucleic acids research·2025
Same author

Author Correction: Complex genetic variation in nearly complete human genomes.

Nature·2025
Same author

Complex genetic variation in nearly complete human genomes.

Nature·2025
Same journal

Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Genome biology·2026
Same journal

Centromeric satellite expansion drives genome evolution in the snowy owl.

Genome biology·2026
Same journal

Mapping the landscape of allele-specific expression in porcine genomes.

Genome biology·2026
Same journal

Genomic sequence evolution underlying human neocortical interareal diversification.

Genome biology·2026
Same journal

Regulatory mechanisms driven by functional 3'-UTR variants in alcohol use disorder and related traits.

Genome biology·2026
Same journal

A longitudinal single-nucleus transcriptomic atlas of bovine placentation reveals dynamic cellular hierarchies and regulatory programs.

Genome biology·2026
See all related articles

Related Experiment Video

Updated: Mar 19, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.6K

The Ensembl Variant Effect Predictor.

William McLaren1, Laurent Gil2, Sarah E Hunt2

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. wm2@ebi.ac.uk.

Genome Biology
|June 9, 2016
PubMed
Summary
This summary is machine-generated.

The Ensembl Variant Effect Predictor (VEP) toolset aids in analyzing and annotating genomic variants. It simplifies and accelerates variant interpretation across diverse study designs, offering reproducible results.

Keywords:
GenomeNGSSNPVariant annotation

More Related Videos

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.7K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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

Published on: August 15, 2019

10.6K

Related Experiment Videos

Last Updated: Mar 19, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.6K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.7K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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

Published on: August 15, 2019

10.6K

Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Genomic variant analysis is crucial for understanding diseases.
  • Interpreting variants in coding and non-coding regions presents challenges.

Purpose of the Study:

  • To introduce the Ensembl Variant Effect Predictor (VEP) as a comprehensive toolset.
  • To highlight VEP's capabilities in variant analysis, annotation, and prioritization.

Main Methods:

  • Utilizes extensive genomic annotation data.
  • Offers versatile interfaces for different user needs.
  • Provides simple configuration and extension options.

Main Results:

  • Facilitates analysis of variants in both coding and non-coding genomic regions.
  • Ensures full reproducibility of analysis results.
  • Supports a wide array of study designs.

Conclusions:

  • The Ensembl Variant Effect Predictor (VEP) significantly simplifies and accelerates genomic variant interpretation.
  • VEP is an open-source, free-to-use tool enhancing genomic research reproducibility.