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 Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

You might also read

Related Articles

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

Sort by
Same author

User Guided Selection and Alignment of Sequence Data by GeneMatrix.

Journal of molecular evolution·2026
Same author

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.

Bioinformatics (Oxford, England)·2026
Same author

AGS-v PLUS, a Mosquito Salivary Peptide Vaccine, Modulates the Response to <i>Aedes</i> Mosquito Bites in Humans.

Vaccines·2025
Same author

Expanding Monitoring Capacity for Potential Invasive Species in Arctic Canada With Environmental DNA Metabarcoding.

Global change biology·2025
Same author

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data.

Biology·2025
Same author

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Movement disorders : official journal of the Movement Disorder Society·2025
Same journal

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026
Same journal

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Journal of medical genetics·2026
Same journal

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026
Same journal

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026
Same journal

Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

Journal of medical genetics·2026
Same journal

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

Journal of medical genetics·2026
See all related articles

Related Experiment Video

Updated: Jun 7, 2026

Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format
08:25

Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format

Published on: April 8, 2017

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

Ian M Carr1, Nick Camm, Graham R Taylor

  • 1Division of Molecular & Translational Medicine, Leeds Institute for Molecular Medicine, University of Leeds, St James's University Hospital, Leeds, UK. i.m.carr@leeds.ac.uk

Journal of Medical Genetics
|November 2, 2010
PubMed
Summary
This summary is machine-generated.

GeneScreen is a new desktop program that efficiently identifies rare mutations in DNA sequences. This software aids researchers in analyzing large batches of sequence data, simplifying mutation detection and verification.

More Related Videos

Pooled CRISPR-Based Genetic Screens in Mammalian Cells
09:05

Pooled CRISPR-Based Genetic Screens in Mammalian Cells

Published on: September 4, 2019

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Related Experiment Videos

Last Updated: Jun 7, 2026

Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format
08:25

Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format

Published on: April 8, 2017

Pooled CRISPR-Based Genetic Screens in Mammalian Cells
09:05

Pooled CRISPR-Based Genetic Screens in Mammalian Cells

Published on: September 4, 2019

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • Capillary electrophoresis remains the benchmark for rare DNA variant detection.
  • High-throughput sequencing has shifted bottlenecks to data analysis.
  • Manual identification of rare sequence variants is labor-intensive.

Purpose of the Study:

  • To develop a free, user-friendly software for efficient mutation screening.
  • To address the need for better software tools in rare variant analysis.

Main Methods:

  • Developed GeneScreen, a desktop application for analyzing capillary electropherograms.
  • Compared DNA sequences against a reference to identify mutations.
  • Utilized a graphical user interface for variant assessment and annotation.

Main Results:

  • GeneScreen analyzes sequence traces and identifies mutations.
  • Detected variants can be exported for reporting and archiving.
  • Validated on over 16,000 diagnostic laboratory sequence traces.

Conclusions:

  • GeneScreen enables rapid identification of rare mutations in large datasets.
  • A single user can analyze hundreds of sequences in minutes.
  • Offers comparable sensitivity to commercial products at no cost.