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 Copying Errors02:46

Genome Copying Errors

5.7K
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.
5.7K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.4K
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%...
19.4K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

20.5K
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,...
20.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

17.3K
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...
17.3K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

122
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...
122
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

142
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
142

You might also read

Related Articles

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

Sort by
Same author

Loss of maternal PADI6 disrupts DNA methylation and genomic imprinting maintenance in late preimplantation mouse embryos.

Epigenetics & chromatin·2026
Same author

Single nucleotide variants in <i>UNC13C</i> associated with neurodevelopmental disorders affect ethanol sensitivity in <i>Drosophila</i>.

Biochemistry and biophysics reports·2025
Same author

Non-cell-autonomous control of mouse gastruloid development by the ultra-conserved lncRNA T-UCstem1.

The EMBO journal·2025
Same author

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Cell·2025
Same author

The dynamic role of TRIM8, a novel ciliary protein, during various stages of mitosis.

Cell death & disease·2025
Same author

Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function.

eLife·2025
Same journal

Temporal trajectories underlying adult neuronal diversity.

Current opinion in genetics & development·2026
Same journal

Transcription regulation of cell fate plasticity - from embryonic development to tissue regeneration.

Current opinion in genetics & development·2026
Same journal

Shared molecular and cellular programs during regeneration of glandular epithelia.

Current opinion in genetics & development·2026
Same journal

Lineage tracing in human cortical development.

Current opinion in genetics & development·2026
Same journal

Cis-regulatory strategies in developmental patterning.

Current opinion in genetics & development·2026
Same journal

GABAergic neuron fate specification and lineage allocation: from development to disorder.

Current opinion in genetics & development·2026
See all related articles

Related Experiment Video

Updated: Apr 20, 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

13.7K

Side effects of genome structural changes.

Alexandre Reymond1, Charlotte N Henrichsen, Louise Harewood

  • 1Center for Integrative Genomics, Genopode Building, University of Lausanne, CH-1015 Lausanne, Switzerland. Alexandre.Reymond@unil.ch

Current Opinion in Genetics & Development
|October 5, 2007
PubMed
Summary
This summary is machine-generated.

Structural human variation is abundant, with copy number variations significantly impacting gene expression. Insertions and deletions can alter phenotypes by affecting neighboring genes, not just those within aneuploid segments.

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

35.1K
Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

1.4K

Related Experiment Videos

Last Updated: Apr 20, 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

13.7K
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

35.1K
Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

1.4K

Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Recent release of an extensive catalog of structural human variation.
  • Identification of abundant large genomic DNA stretches with considerable copy number variation.
  • Recognition of the potential role of structural variations in functional diversity.

Purpose of the Study:

  • To review the mechanisms by which genomic insertions and deletions influence phenotypic differences.
  • To explore how structural variations affect gene expression in neighboring regions.
  • To understand the functional consequences of structural human variation.

Main Methods:

  • Review of existing literature on structural variation and gene expression.
  • Analysis of data from the human variation catalog.
  • Examination of studies investigating copy number variations and their effects.

Main Results:

  • Structural human variation, particularly copy number variations, is highly prevalent.
  • Genomic insertions and deletions contribute to phenotypic variation.
  • These variations impact gene expression of both within-segment genes and neighboring genes.

Conclusions:

  • Structural genomic variations play a significant role in human functional diversity.
  • Mechanisms exist by which copy number changes in one genomic region can affect the expression of adjacent genes.
  • Further research into these mechanisms is warranted to fully understand their contribution to phenotype.