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

Genetic Screens

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...

You might also read

Related Articles

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

Sort by

Same author

Genetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation.

Digestive diseases and sciences·2026

Same author

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

European journal of human genetics : EJHG·2026

Same author

Targeted sequencing with single-molecule molecular inversion probes highlights a gap in understanding the cause of Fuchs endothelial corneal dystrophy.

Molecular vision·2026

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

ACP4 Variants in Hypoplastic Amelogenesis Imperfecta.

Calcified tissue international·2026

Same journal

Single-Cell and Multiomics Characterization of p21 in Cancer Progression and Therapeutic Sensitivity.

Human mutation·2026

Same journal

COL1A1 and SERPINE1 as Potential Therapeutic Targets in Diabetic Retinopathy: A Study Incorporating RNA Transcriptomics, Single-Cell RNA Sequencing, and Proteomics.

Human mutation·2026

Same journal

Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16.

Human mutation·2026

Same journal

RETRACTION: "Differential Effects of AKT1(p.E17K) Expression on Human Mammary Luminal Epithelial and Myoepithelial Cells".

Human mutation·2026

Same journal

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Human mutation·2026

Same journal

Exploring the Functional Impact of Individual <i>DDX41</i> Variants With a Fast and Robust Cell-Based Method.

Human mutation·2026

See all related articles

Search research articles

Related Experiment Video

Updated: May 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Christopher M Watson¹, Laura A Crinnion, Joanne E Morgan

¹Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, LS9 7TF, United Kingdom.

|December 6, 2013

Summary

This summary is machine-generated.

Clinical diagnostic laboratories can now efficiently interpret genetic variants using new interactive filtering tools. These Agile tools improve the speed and accuracy of next-generation sequencing analysis for genetic disease diagnosis.

Keywords:

exome sequencing mutation detection sequence analysis software

More Related Videos

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Related Experiment Videos

Last Updated: May 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Genomics
Clinical Diagnostics
Bioinformatics

Background:

Next-generation sequencing (NGS) is crucial for genetic variation analysis in research and diagnostics.
Clinical labs face challenges with variant interpretation bottlenecks due to time constraints.

Purpose of the Study:

To develop and validate interactive tools (AgileExomeFilter, AgilePindelFilter) for efficient genetic variant filtering in clinical settings.
To assess the diagnostic efficacy of these tools in cancer and primary ciliary dyskinesia (PCD) cohorts.

Main Methods:

Developed interactive variant filtering tools (AgileExomeFilter, AgilePindelFilter) integrated with standard Unix pipelines.
Applied targeted gene capture and whole-exome capture for variant analysis in 128 patients.
Validated variant calls against previous diagnostic data.

Main Results:

Achieved complete concordance with previous diagnostic data for 793 variant genotypes in a cancer cohort.
Demonstrated a high diagnostic yield (42%) for exome-based primary ciliary dyskinesia (PCD) diagnosis.
Identified a novel homozygous truncating mutation in the PCD gene DNAH8 through parameter adjustments.

Conclusions:

The Agile tools enable flexible expansion of diagnostic testing portfolios in clinical laboratories.
Interactive variant filtering enhances efficiency and scalability for NGS-based genetic diagnostics.
The developed approach supports accurate variant interpretation and novel gene discovery.