Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

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).

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

Mutations in Microorganisms

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

You might also read

Related Articles

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

Sort by

Same author

Shared trans-ancestry architecture of HLA-mediated disease risk in the <i>All of Us</i> Research Program.

medRxiv : the preprint server for health sciences·2026

Same author

Prenatal Smoking Exposures and Epigenome-Wide Methylation in Newborn Blood.

Environmental health perspectives·2026

Same author

Persistence of large mtDNA rearrangements linked to premature aging in Pol γ exonuclease-deficient mice.

Nucleic acids research·2026

Same author

Methionine Deprivation-induced Reprogramming of Hepatic Rhythms Is Mediated by Glucocorticoid Receptor.

bioRxiv : the preprint server for biology·2026

Same author

The PEGS DREAM Challenge: A Crowdsourcing Approach to Understanding Hypercholesterolemia with Multi- dimensional Genomic and Environmental Data.

Research square·2026

Same author

GLIS3 is a key regulator of astrocyte differentiation in human neural stem cells.

bioRxiv : the preprint server for biology·2026

Search research articles

Related Experiment Video

Updated: Feb 10, 2026

Enabling High Grayscale Resolution Displays and Accurate Response Time Measurements on Conventional Computers

Enabling High Grayscale Resolution Displays and Accurate Response Time Measurements on Conventional Computers

Published on: February 29, 2012

Muver, a computational framework for accurately calling accumulated mutations.

Adam B Burkholder¹, Scott A Lujan², Christopher A Lavender¹

¹Integrative Bioinformatics, National Institute of Environmental Health Sciences, NIH, DHHS, Research Triangle Park, Durham, NC, 27709, USA.

|May 11, 2018

Summary

We developed muver, a computational framework for accurate DNA insertion and deletion (indel) mutation detection from next-generation sequencing data. Muver achieves high sensitivity and low false positive rates, improving mutation rate determination.

Keywords:

DNA-seq Indel Mutation Mutation accumulation Mutation rate

More Related Videos

Watershed Planning within a Quantitative Scenario Analysis Framework

Watershed Planning within a Quantitative Scenario Analysis Framework

Published on: July 24, 2016

Author Spotlight: Advancing Biotherapeutic Mass Calculation by Introducing mAbScale, a Python-Based Desktop Application

Author Spotlight: Advancing Biotherapeutic Mass Calculation by Introducing mAbScale, a Python-Based Desktop Application

Published on: June 16, 2023

Related Experiment Videos

Last Updated: Feb 10, 2026

Enabling High Grayscale Resolution Displays and Accurate Response Time Measurements on Conventional Computers

Enabling High Grayscale Resolution Displays and Accurate Response Time Measurements on Conventional Computers

Published on: February 29, 2012

Watershed Planning within a Quantitative Scenario Analysis Framework

Watershed Planning within a Quantitative Scenario Analysis Framework

Published on: July 24, 2016

Author Spotlight: Advancing Biotherapeutic Mass Calculation by Introducing mAbScale, a Python-Based Desktop Application

Author Spotlight: Advancing Biotherapeutic Mass Calculation by Introducing mAbScale, a Python-Based Desktop Application

Published on: June 16, 2023

Area of Science:

Genomics
Bioinformatics
Molecular Biology

Background:

Accurate identification of DNA mutations, especially insertions and deletions (indels), from next-generation sequencing (NGS) data is crucial but challenging.
Indels can have significant phenotypic effects but are harder to call accurately compared to substitution mutations.
Existing methods often struggle to balance sensitivity and accuracy for indel detection.

Purpose of the Study:

To present muver, a novel computational framework designed to enhance the accuracy and sensitivity of indel mutation detection in NGS data.
To provide a tool for precise mutation rate determination and comparison.
To facilitate mechanistic insights into DNA replication fidelity.

Main Methods:

Muver integrates established bioinformatics tools with novel analytical methods.
It employs statistical comparison of ancestral and descendant allelic frequencies to identify variant loci.
Genotypes are assigned using models that assess per-sample sequencing errors by mutation type and repeat context.
Maximally parsimonious mutation pathways are identified to differentiate allelic conversion events and resolve ambiguities.

Main Results:

Benchmarking against a human gold standard father-son pair demonstrated muver's high sensitivity and low false positive rates.
In DNA mismatch repair (MMR)-deficient Saccharomyces cerevisiae, muver detected multi-base deletions in homopolymers at rates exceeding predictions for sequential single-base deletions.
This suggests a novel multi-repeat-unit slippage mechanism in DNA replication.

Conclusions:

Muver achieves high accuracy and sensitivity, particularly for indel detection, outperforming available tools.
The framework's application to an MMR-deficient yeast system provides mechanistic insights into DNA replication fidelity.
Muver enables more accurate mutation rate determination and comparison, crucial for genomic studies.