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

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
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

61.5K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
61.5K
What is Population Genetics?01:25

What is Population Genetics?

64.1K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.1K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.5K
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%...
18.5K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.7K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.7K
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

75.7K
Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
75.7K

You might also read

Related Articles

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

Sort by
Same author

Circulating monocyte gene expression profiles associated with cardiac remodeling and incident heart failure in the Multi-Ethnic Study of Atherosclerosis.

Communications medicine·2026
Same author

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Nature medicine·2026
Same author

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

bioRxiv : the preprint server for biology·2026
Same author

Germline Whole-Genome Sequencing in Early-Onset Pediatric Solid Tumors Implicates Novel Risk Factors.

JCO precision oncology·2026
Same author

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in <i>GNPTAB</i>.

Circulation. Genomic and precision medicine·2026
Same author

In Vivo Base Editing of <i>PCSK9</i> with VERVE-102 for Hypercholesterolemia.

The New England journal of medicine·2026
Same journal

Six ways to put the public at the heart of science and policy.

Nature·2026
Same journal

The complex truth about trust in science.

Nature·2026
Same journal

Have people stopped trusting science? The data tell a surprising story.

Nature·2026
Same journal

How FAIR data are helping to build trust in science.

Nature·2026
Same journal

Scientists should recognize their own political biases to build public trust.

Nature·2026
Same journal

Harmonizing standards and resources for the medical genome.

Nature·2026
See all related articles

Related Experiment Video

Updated: Dec 20, 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

1.3K

A structural variation reference for medical and population genetics.

Ryan L Collins1,2,3, Harrison Brand1,2,4, Konrad J Karczewski1,5

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nature
|May 29, 2020
PubMed
Summary
This summary is machine-generated.

A new reference map of structural variants (SVs) from 14,891 genomes reveals their significant role in human disease and evolution. This resource aids genetic interpretation and diagnostic screening.

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

34.5K
Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.7K

Related Experiment Videos

Last Updated: Dec 20, 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

1.3K
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

34.5K
Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.7K

Area of Science:

  • Genomics
  • Human Genetics
  • Population Genetics

Background:

  • Structural variants (SVs) significantly impact evolution and human disease.
  • Genome sequencing is crucial for biobanks and genetic testing.
  • A comprehensive reference map for SVs from high-coverage genomes is lacking.

Purpose of the Study:

  • To create a reference map of sequence-resolved structural variants (SVs) using a large, diverse population dataset.
  • To assess the contribution of SVs to rare protein-truncating events and their relationship with natural selection.
  • To identify large, rare SVs and estimate their prevalence in clinically significant findings.

Main Methods:

  • Construction of a structural variant (SV) reference map from 14,891 genomes in gnomAD.
  • Analysis of 433,371 discovered SVs across diverse global populations.
  • Correlation analysis between SVs, single-nucleotide variants (SNVs), and natural selection pressures.

Main Results:

  • Discovery of 433,371 structural variants (SVs), revealing a complex landscape.
  • Estimation that SVs account for 25-29% of rare protein-truncating events.
  • Identification of significant natural selection against damaging SVs in coding regions and modest selection in regulatory elements.
  • Detection of large, rare SVs in 3.9% of samples, with 0.13% potentially meeting criteria for clinical incidental findings.

Conclusions:

  • The new SV reference map provides a valuable resource for population genetics, disease association studies, and clinical diagnostics.
  • Structural variants (SVs) play a substantial role in genetic variation and are under natural selection.
  • This resource, available via the gnomAD browser, will enhance the interpretation of genomic data and improve diagnostic screening.