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

Structural Organization of the Human Body: An Overview01:18

Structural Organization of the Human Body: An Overview

24.2K
It is convenient to consider the body's structures in terms of fundamental levels of organization that increase in complexity: subatomic particles, atoms, molecules, organelles, cells, tissues, organs, organ systems, and organisms.
To study the chemical level of organization, scientists consider the simplest building blocks of matter: subatomic particles, atoms, and molecules. All matter in the universe is composed of one or more unique pure substances called elements, familiar examples of...
24.2K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.4K
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%...
18.4K
Human Genetics01:28

Human Genetics

1.3K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.3K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.7K
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,...
17.7K
Genetic Variation01:25

Genetic Variation

1.1K
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,...
1.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.1K
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...
15.1K

You might also read

Related Articles

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

Sort by
Same author

Single-cell template strand sequencing reveals culture-induced chromosomal instability in a gibbon cell line.

Genome research·2026
Same author

A segmental duplication-mediated deletion leads to neocentromere formation in orangutans.

bioRxiv : the preprint server for biology·2026
Same author

Genetic effects on migration behavior contribute to increasing spatial differentiation at trait-associated loci in Estonia.

iScience·2025
Same author

Leaping between branches: Hybridisation and the tangled evolutionary history of true lemurs.

Molecular phylogenetics and evolution·2025
Same author

A Reassessment of the Genomic Ancestry of the World's Largest Captive Baboon Colony.

American journal of primatology·2025
Same author

Evolutionary Differences in Uric Acid Metabolism Inform about the Risks of Pig-to-Human Kidney Transplant.

Journal of the American Society of Nephrology : JASN·2025

Related Experiment Video

Updated: Dec 14, 2025

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

1.2K

A Worldwide Map of Human Structural Variants.

Francesco Montinaro1, Cristian Capelli2

  • 1Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Trends in Genetics : TIG
|July 22, 2020
PubMed
Summary

This study presents a global catalog of human structural genomic variation, revealing novel variants and ancient DNA contributions. These findings highlight the roles of genetic drift and natural selection in shaping human diversity.

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

10.2K
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

34.4K

Related Experiment Videos

Last Updated: Dec 14, 2025

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

1.2K
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

10.2K
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

34.4K

Area of Science:

  • Human genomics
  • Population genetics
  • Evolutionary biology

Background:

  • Genomic variation encompasses single nucleotide variants to large chromosomal rearrangements.
  • The full spectrum of structural variation in Homo sapiens remains incompletely understood.
  • Understanding structural variation is crucial for comprehending human diversity and evolution.

Purpose of the Study:

  • To compile a comprehensive worldwide catalog of structural variants in human populations.
  • To identify novel structural variants and their origins.
  • To investigate the evolutionary forces shaping the distribution of these variants.

Main Methods:

  • Analysis of large-scale genomic datasets from diverse human populations.
  • Identification and characterization of structural variants.
  • Comparative genomics to trace ancient DNA contributions.

Main Results:

  • A worldwide catalog of human structural variants was established.
  • A significant proportion of the identified variants are novel.
  • Evidence of structural variants inherited from Neanderthals and Denisovans was found.
  • Genetic drift and selection were identified as key drivers of variant distribution.
  • Some variants showed potential functional implications.

Conclusions:

  • The study provides an unprecedented resource for human structural variation.
  • Ancient introgression has contributed to the modern human structural variant landscape.
  • Evolutionary mechanisms have shaped the functional landscape of human genomes.