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

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

14.9K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
14.9K
Mutations01:39

Mutations

94.5K
Overview
94.5K
Viral Mutations00:36

Viral Mutations

39.9K
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...
39.9K
From DNA to Protein03:06

From DNA to Protein

22.4K
The flow of genetic information in cells from DNA to mRNA to protein is described by the central dogma, which states that genes specify the sequence of mRNAs, which in turn specify the sequence of amino acids making up all proteins. The decoding of one molecule to another is performed by specific proteins and RNAs. Because the information stored in DNA is so central to cellular function, it makes intuitive sense that the cell would make mRNA copies of this information for protein synthesis...
22.4K
Bacterial RNA Polymerase00:43

Bacterial RNA Polymerase

32.8K
Unlike eukaryotes, bacteria use a single RNA Polymerase (RNAP) to transcribe all genes. The different subunits of bacterial RNAPhave distinct functions. The multisubunit structure of the bacterial RNAP helps the enzyme to maintain catalytic function, facilitate assembly, interact with DNA and RNA, and self-regulate its activity.
In most genes, the transcription site is a single base present upstream of the coding sequence. Though RNAP is a catalytically efficient enzyme, it does not recognize...
32.8K
RNA Splicing01:32

RNA Splicing

60.6K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
60.6K

You might also read

Related Articles

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

Sort by
Same author

The Development of Tools to Investigate Potential Sources of Sample Misidentification Within a Biorepository: Case Studies.

Biopreservation and biobanking·2026
Same author

RAS signaling in lung adenocarcinoma is defined by lineage context and DUSP4 loss.

JCI insight·2026
Same author

The NeuroBioBank whole-genome catalogue of human brain donors with central nervous system disorders.

Brain : a journal of neurology·2026
Same author

A single valine to leucine switch disrupts Plasmodium falciparum AP2-G DNA binding and reveals GDV1's role in ap2-g activation.

Nature communications·2026
Same author

Mapping the secondary response to traumatic brain injury using spatial transcriptomics shows acute 4-aminopyridine treatment mitigates axonal and molecular pathology.

Acta neuropathologica communications·2026
Same author

A Spatial Gene Expression Signature of the Mouse Brain Post-Injury at the Focal Point of Contusion.

Journal of neurotrauma·2025

Related Experiment Video

Updated: Feb 3, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

A Computational Protocol for Detecting Somatic Mutations by Integrating DNA and RNA Sequencing.

Matthew D Wilkerson1

  • 1Collaborative Health Initiative Research Program, The American Genome Center, Department of Anatomy, Physiology and Genetics, Uniformed Services University, Bethesda, MD, USA. matthew.wilkerson.ctr@usuhs.edu.

Methods in Molecular Biology (Clifton, N.J.)
|November 1, 2018
PubMed
Summary

Detecting cancer somatic mutations is crucial for diagnosis. Integrating DNA and RNA sequencing with the UNCeqR software enhances mutation detection power, especially in low-purity tumors.

Keywords:
CancerMutationOpen sourceProtocolSomaticUNCeqR

More Related Videos

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.8K
Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

12.4K

Related Experiment Videos

Last Updated: Feb 3, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K
Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.8K
Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

12.4K

Area of Science:

  • Genomics
  • Cancer Research
  • Bioinformatics

Background:

  • Somatic mutation detection is vital for cancer genome research and tumor molecular diagnosis.
  • Traditional methods rely on DNA exome or whole genome sequencing.
  • Low-purity tumors present challenges for accurate mutation detection.

Purpose of the Study:

  • To present a computational protocol for enhanced somatic mutation detection.
  • To demonstrate the increased statistical power of integrating multiple sequencing technologies.
  • To enable investigators to detect somatic mutations using patient-matched tumor DNA, tumor RNA, and germline specimens.

Main Methods:

  • Utilizing the open-source software UNCeqR.
  • Integrating DNA exome sequencing and RNA sequencing data.
  • Analyzing patient-matched tumor DNA, tumor RNA, and germline specimens.

Main Results:

  • The integration of RNA sequencing with DNA exome sequencing significantly increases statistical power for mutation detection.
  • This approach is particularly effective for detecting mutations in low-purity tumors.
  • The UNCeqR protocol facilitates the integration of multi-platform sequencing data.

Conclusions:

  • Integrating DNA and RNA sequencing provides a more powerful approach for somatic mutation detection.
  • The UNCeqR software offers a robust computational solution for this integrated analysis.
  • This method improves the molecular diagnosis of patients' tumors, especially in challenging low-purity cases.