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

What is Variation?01:14

What is Variation?

18.4K
Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
18.4K
Variation01:19

Variation

8.0K
An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
8.0K
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

6.8K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
6.8K
Variation of Atmospheric Pressure01:18

Variation of Atmospheric Pressure

4.1K
Change in atmospheric pressure with height is particularly interesting. The decrease in atmospheric pressure with increasing altitude is due to the decreasing gravitational force per unit area as we move away from the surface of the earth.
Assuming the air temperature is constant at a given altitude and that the ideal gas law of thermodynamics describes the atmosphere to a good approximation, one can find the variation of atmospheric pressure with height.
Let p(y) be the atmospheric pressure at...
4.1K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.7K
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%...
18.7K
Coefficient of Variation01:10

Coefficient of Variation

8.6K
The coefficient of variation measures the dispersion of the data points or distribution around the mean. Using the coefficient of variation, we can compare two data series with drastically different means or different units of measurement. The coefficient of variation for a sample and a population is expressed as a percentage of the ratio of standard deviation to the mean.
The coefficient of variation is a practical statistical tool in finance. It allows investors to assess the volatility or...
8.6K

You might also read

Related Articles

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

Sort by
Same author

A complete human pancreatic cancer genome.

bioRxiv : the preprint server for biology·2026
Same author

The Impact of Structural Variation on Alzheimer's Disease in the Alzheimer's Disease Sequencing Project.

Research square·2026
Same author

Basic Science and Pathogenesis.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2025
Same author

Enriching for Answers in Rare Diseases.

medRxiv : the preprint server for health sciences·2025
Same author

Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractions.

bioRxiv : the preprint server for biology·2025
Same author

K-mer analysis of long-read alignment pileups for structural variant genotyping.

Nature communications·2025

Related Experiment Video

Updated: Jan 28, 2026

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches
09:35

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches

Published on: April 20, 2021

7.3K

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Christine R Beck1, Claudia M B Carvalho1, Zeynep C Akdemir1

  • 1Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.

Cell
|March 5, 2019
PubMed
Summary

This study reveals that microhomology-mediated break-induced replication (MMBIR) causes structural variants (SVs) in the human genome. MMBIR leads to mutations near rearrangement sites, impacting genes.

Keywords:
CNVsDNA repaircomplex rearrangementsgenomic characterizationgenomic disorderslong-read sequencingphasing

More Related Videos

Precision Implementation of Minimal Erythema Dose MED Testing to Assess Individual Variation in Human Inflammatory Response
06:31

Precision Implementation of Minimal Erythema Dose MED Testing to Assess Individual Variation in Human Inflammatory Response

Published on: October 3, 2019

9.2K
Variations on Negative Stain Electron Microscopy Methods: Tools for Tackling Challenging Systems
06:06

Variations on Negative Stain Electron Microscopy Methods: Tools for Tackling Challenging Systems

Published on: February 6, 2018

34.2K

Related Experiment Videos

Last Updated: Jan 28, 2026

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches
09:35

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches

Published on: April 20, 2021

7.3K
Precision Implementation of Minimal Erythema Dose MED Testing to Assess Individual Variation in Human Inflammatory Response
06:31

Precision Implementation of Minimal Erythema Dose MED Testing to Assess Individual Variation in Human Inflammatory Response

Published on: October 3, 2019

9.2K
Variations on Negative Stain Electron Microscopy Methods: Tools for Tackling Challenging Systems
06:06

Variations on Negative Stain Electron Microscopy Methods: Tools for Tackling Challenging Systems

Published on: February 6, 2018

34.2K

Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Structural variants (SVs) in the human genome arise from various mutational processes.
  • Understanding the mechanisms behind de novo rearrangements is crucial for deciphering genome instability.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying de novo chromosome 17p11.2 rearrangements.
  • To analyze both recurrent and non-recurrent structural variant formation events.

Main Methods:

  • Utilized long- and short-read sequencing technologies.
  • Analyzed end products of de novo chromosome 17p11.2 rearrangements.

Main Results:

  • Observed an increased rate of clustered single-nucleotide variant (SNV) mutations associated with non-recurrent rearrangements.
  • Found that indel and SNV formation occur up to ~1 Mb from breakpoint junctions in both copy-number gains and losses.
  • Identified a preference for C > G transversion substitutions, suggesting single-stranded DNA involvement.
  • Provided strong evidence supporting the microhomology-mediated break-induced replication (MMBIR) mechanism for SV formation.
  • Detected a localized hypermutation burden from MMBIR, manifesting as SNVs and indels primarily within genes.

Conclusions:

  • The microhomology-mediated break-induced replication (MMBIR) mechanism contributes significantly to structural variant formation.
  • MMBIR imposes an additional mutational burden, characterized by localized hypermutation (SNVs and indels) within genes.