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CRISPR

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...

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Related Experiment Video

Updated: Jun 24, 2025

Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms

Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms

Published on: May 25, 2018

Reducing uncertainty in genetic testing with Saturation Genome Editing.

Phoebe Dace¹, Gregory M Findlay¹

¹The Genome Function Laboratory, The Francis Crick Institute, 1 Midland Rd, London, United Kingdom.

Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V

|June 5, 2024

Summary

Saturation Genome Editing (SGE) is a powerful tool for testing genetic variants, aiding in the interpretation of human genetic data for improved genomic medicine outcomes. This scalable method shows promise for clinical applications, particularly for genes like BRCA1.

Keywords:

CRISPR Saturation Genome Editing functional assays genotype–phenotype variants of uncertain significance

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Published on: April 8, 2017

Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells

Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells

Published on: September 25, 2019

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Last Updated: Jun 24, 2025

Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms

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Published on: May 25, 2018

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

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Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells

Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells

Published on: September 25, 2019

Area of Science:

Genomics
Genetic Variant Analysis
Functional Genomics

Background:

Accurate interpretation of human genetic data is crucial for advancing genomic medicine.
High-throughput methods are needed to assess the functional impact of numerous genetic variants in disease genes.

Purpose of the Study:

To review experimental tools for scalable variant assays, with a focus on Saturation Genome Editing (SGE).
To discuss the implementation and clinical validation of SGE for variant interpretation, using BRCA1 as a case study.

Main Methods:

Review of experimental techniques for scalable variant functional assays.
Focus on Saturation Genome Editing (SGE) methodology.
Analysis of SGE data for variant pathogenicity prediction.

Main Results:

Saturation Genome Editing (SGE) enables scalable functional assays for genetic variants.
SGE data for BRCA1 variants have been clinically validated and successfully used for variant interpretation.
The technique demonstrates initial success in predicting variant pathogenicity.

Conclusions:

SGE is a valuable tool for large-scale variant testing and interpretation in genomic medicine.
Clinical validation of SGE for BRCA1 highlights its potential for real-world applications.
The success of SGE is driving efforts to apply it to a wider range of genes.