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

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, which...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...

You might also read

Related Articles

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

Sort by
Same author

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.

Genome biology·2026
Same author

Colibactin-associated mutations in the human colon appear to reflect anatomy and early exposure, not oncogenesis.

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

Genealogy-based trait association with LOCATER boosts power at loci with allelic heterogeneity.

Genome research·2026
Same author

A family portrait of the genomic factors shaping tandem repeat mutagenesis.

bioRxiv : the preprint server for biology·2026
Same author

Comparison of variant callers using 60 532 multi-ancestry whole genome sequences.

Briefings in bioinformatics·2026
Same author

The selective dynamics of interruptions at short tandem repeats.

Genetics·2026
Same journal

Beyond housekeeping: snRNA diversity, regulation, and human disease.

Trends in genetics : TIG·2026
Same journal

Rethinking mitochondrial metabolism: Intraindividual variability meets population constraints.

Trends in genetics : TIG·2026
Same journal

A role for epigenetics in rapid adaptation.

Trends in genetics : TIG·2026
Same journal

The myth of asexual fungi.

Trends in genetics : TIG·2026
Same journal

Rethinking molecular evolution through protein language model embeddings.

Trends in genetics : TIG·2026
Same journal

Co-transcriptional splicing: Distinct phases, mutual benefits, and basis for nuclear architecture.

Trends in genetics : TIG·2026
See all related articles

Related Experiment Video

Updated: May 27, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Characterizing complex structural variation in germline and somatic genomes.

Aaron R Quinlan1, Ira M Hall

  • 1Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.

Trends in Genetics : TIG
|November 19, 2011
PubMed
Summary
This summary is machine-generated.

Genome structural variations (SVs) are key to mammalian diversity and cancer. Complex SVs, with clustered breakpoints, challenge traditional classification and mapping, requiring advanced sequencing techniques for characterization.

More Related Videos

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

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Related Experiment Videos

Last Updated: May 27, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

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

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Area of Science:

  • Genomics
  • Mammalian Genetics
  • Cancer Biology

Background:

  • Genome structural variation (SV) drives mammalian genetic diversity and is a hallmark of cancer.
  • Canonical SVs include duplication, deletion, insertion, inversion, and translocation.
  • Recent studies reveal numerous complex SVs that defy simple classification.

Purpose of the Study:

  • To review current knowledge of complex SVs in mammals.
  • To outline methods for identifying and characterizing complex SVs.

Main Methods:

  • Review of existing literature on complex SVs.
  • Discussion of next-generation DNA sequencing techniques for SV mapping.

Main Results:

  • Complex SVs are characterized by clustered breakpoints resulting from a single mutation event.
  • These variants can involve complex rearrangements between multiple chromosomal loci or subtle alterations within a single locus.
  • Identifying and characterizing complex SVs poses significant challenges for current mapping experiments.

Conclusions:

  • Complex SVs represent a significant and challenging aspect of genome variation in mammals.
  • Next-generation sequencing technologies are crucial for advancing the study and understanding of complex SVs.