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

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

16.7K
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.
16.7K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.6K
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,...
14.6K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.6K
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%...
11.6K
Mutations01:35

Mutations

31.2K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
31.2K
Mutations01:39

Mutations

66.8K
Overview
66.8K
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

9.5K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
9.5K

You might also read

Related Articles

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

Sort by
Same author

Proteomic signatures as biomarkers of atherosclerosis burden.

Cardiovascular research·2026
Same author

Transcriptome analysis in osteoarthritis primary tissues identifies high-confidence effector genes.

Nature communications·2026
Same author

The causal association between sleep traits and osteoarthritis traits: evidence from bidirectional mendelian randomization.

Human molecular genetics·2026
Same author

Genetics of osteoarthritis: Insights from GWAS to therapeutic opportunities.

Osteoarthritis and cartilage·2026
Same author

Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome.

Cell·2026
Same author

HistoGWAS: an AI-enabled framework for automated genetic analysis of tissue phenotypes in histology cohorts.

Genome biology·2026
Same journal

Spatio-DARLIN enables robust and efficient in situ lineage tracing in mice at single-cell resolution.

Nature methods·2026
Same journal

EasyGrid: a versatile platform for automated cryo-EM sample preparation and quality control.

Nature methods·2026
Same journal

Cloud-based microscope enables live neuroimaging for 24 h and beyond with worldwide access.

Nature methods·2026
Same journal

Deep molecular profiling in three dimensions.

Nature methods·2026
Same journal

3D pathology-guided microdissection.

Nature methods·2026
Same journal

Challenges and recommendations in establishing national human diversity genomic projects.

Nature methods·2026
See all related articles

Related Experiment Video

Updated: May 3, 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

12.5K

Functional annotation of noncoding sequence variants.

Graham R S Ritchie1, Ian Dunham2, Eleftheria Zeggini3

  • 11] European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge, UK. [2] Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

Nature Methods
|February 4, 2014
PubMed
Summary
This summary is machine-generated.

Identifying functional genetic variants is hard, especially outside protein-coding genes. We developed genome-wide annotation of variants (GWAVA), a tool to help prioritize these noncoding variants using genomic and epigenomic data.

More Related Videos

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

36.1K
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

1.5K

Related Experiment Videos

Last Updated: May 3, 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

12.5K
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

36.1K
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

1.5K

Area of Science:

  • Human genetics
  • Genomics
  • Bioinformatics

Background:

  • Identifying functionally relevant genetic variants is a significant challenge in human genetics.
  • Interpreting variants outside protein-coding regions is particularly difficult due to limitations in understanding genetic code and splicing outside these areas.

Purpose of the Study:

  • To present genome-wide annotation of variants (GWAVA), a novel computational tool.
  • To support the prioritization of noncoding genetic variants.

Main Methods:

  • Development of the genome-wide annotation of variants (GWAVA) tool.
  • Integration of diverse genomic and epigenomic annotations to prioritize variants.

Main Results:

  • GWAVA provides a method for prioritizing noncoding variants.
  • The tool leverages multiple annotation sources for improved variant interpretation.

Conclusions:

  • GWAVA facilitates the identification of functionally relevant noncoding variants.
  • This tool aids researchers in navigating the complexities of genetic variation analysis.