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

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
Incomplete Dominance01:43

Incomplete Dominance

25.4K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.4K
Genetic Variation01:25

Genetic Variation

387
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,...
387
Epistasis Analysis01:09

Epistasis Analysis

5.2K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.2K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.8K
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,...
15.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.1K
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...
14.1K

You might also read

Related Articles

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

Sort by
Same author

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

European journal of human genetics : EJHG·2026
Same author

Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia-Lymphedema Syndrome 2.

American journal of medical genetics. Part A·2026
Same author

<i>PTPN1</i>-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

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

Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations.

Genome medicine·2026
Same author

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.

Genome research·2026
Same author

Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiation.

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

Tissue MicroRNAs in Arrhythmogenic Cardiomyopathy: A Systematic Review of Studies in Human Myocardium and Animal Models with Implications for Post-Mortem Molecular Diagnostics.

Genes·2026
Same journal

Genetic Variants and Dental Caries Susceptibility: An Umbrella Review and Multilevel Meta-Analysis.

Genes·2026
Same journal

Generative AI and Language Models in Human Genetics and Health: From Variant Interpretation to Clinical Decision Support.

Genes·2026
Same journal

Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

Genes·2026
Same journal

Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia.

Genes·2026
Same journal

THBS1 as a Key Regulator of Myoblasts: Validation of Its Inhibitory Roles in Skeletal Muscle Development.

Genes·2026
See all related articles

Related Experiment Video

Updated: Sep 10, 2025

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

13.1K

Structural Variants: Mechanisms, Mapping, and Interpretation in Human Genetics.

Shruti Pande1, Moez Dawood1,2,3, Christopher M Grochowski1,2

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Genes
|August 28, 2025
PubMed
Summary
This summary is machine-generated.

Structural variations (SVs) are genomic changes impacting traits and diseases. Advances in sequencing improve SV detection, but understanding their functional impact and mechanisms remains crucial for genomics research.

Keywords:
SV callersSV mutagenesis mechanismsmulti-omicsnext-generation sequencingstructural variations (SVs)

More Related Videos

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

9.9K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.0K

Related Experiment Videos

Last Updated: Sep 10, 2025

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

13.1K
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

9.9K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.0K

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Structural variations (SVs) involve DNA breakage and rejoining, affecting gene dosage and rearrangements.
  • SVs are implicated in physical traits, genomic disorders, and complex traits.

Purpose of the Study:

  • To provide an overview of structural variations.
  • To discuss their mutagenesis mechanisms and detection in the genomics era.

Main Methods:

  • Review of recent advances in sequencing technologies.
  • Analysis of bioinformatics tools for SV detection and interpretation.

Main Results:

  • Sequencing and bioinformatics have significantly improved SV detection resolution and scale.
  • Functional impact and mechanisms of SVs in complex traits are active research areas.

Conclusions:

  • Despite technological advances, challenges in SV detection, annotation, and functional interpretation persist.
  • Future research directions focus on understanding SV mechanisms and biological significance.