Search research articles

关于 JoVE

概览领导团队博客 JoVE 帮助中心

作者

出版流程编辑委员会范围与政策同行评审常见问题投稿

图书馆员

用户评价订阅访问资源图书馆顾问委员会常见问题

研究

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments 存档

教育

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual 教师资源中心教师网站

使用条款与条件

相关概念视频

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...

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序

Same author

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Nature genetics·2026

Same author

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Nature·2026

Same author

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Nature genetics·2026

Same author

Analysis of the association of lipid-lowering therapy on clonal dynamics in clonal haematopoiesis of indeterminate potential: insights from the English Longitudinal Study of Ageing.

Leukemia·2025

Same author

Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.

American journal of human genetics·2025

Same author

Analysis of the effects of statin therapy on clonal dynamics in clonal haematopoiesis of indeterminate potential: insights from the English Longitudinal Study of Ageing.

medRxiv : the preprint server for health sciences·2025

Search research articles

相关实验视频

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

通过和基因组编辑来减少遗传测试中的不确定性.

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

概括

和基因组编辑 (SGE) 是测试遗传变异的强大工具,有助于解释人类遗传数据,以改善基因组医学结果. 这种可扩展的方法显示出临床应用的前景,特别是像BRCA1.1这样的基因.

科学领域:

基因组学就是基因组学.
遗传变异分析遗传变异分析
功能性基因组学功能性基因组学

背景情况:

对人类遗传数据的准确解释对于推进基因组医学至关重要.
需要高通量方法来评估疾病基因中众多遗传变异的功能影响.

研究的目的:

审查可扩展变异试验的实验工具,重点是和基因组编辑 (SGE).
讨论SGE用于变体解释的实施和临床验证,使用BRCA1作为案例研究.

主要方法:

对可扩展变异功能测试的实验技术的审查.
专注于和基因组编辑 (SGE) 方法.
分析SGE数据用于变种病原性预测.

主要成果:

和基因组编辑 (SGE) 允许对遗传变异进行可扩展的功能测试.
对BRCA1变异的SGE数据已经过临床验证,并成功用于变异解释.
该技术在预测变异病原性方面初步取得了成功.

结论:

基因组学是基因组医学中大规模变异测试和解释的宝贵工具.

关键词:

克里斯普尔是什么意思?克里斯普尔是什么意思?和基因组编辑和基因组编辑功能性检测试验功能性检测试验基因型表型基因型表型不确定意义的变体.

更多相关视频

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

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

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

相关实验视频

Last 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

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

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

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

对BRCA1的SGE临床验证突出了其在现实世界中应用的潜力.

SGE的成功推动了将其应用于更广泛的基因范围的努力.