Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
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 JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

70
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
70
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.4K
Genetic Screens02:46

Genetic Screens

5.8K
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...
5.8K

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

A prospective natural history study protocol for clinical trial readiness in synaptic disorders.

Epilepsia·2026
Same author

Systematic review and meta-analysis of lifestyle modification interventions and their impact on seizure reduction and quality of life.

Epilepsia·2026
Same author

An epilepsy-associated KV3.1 potassium channel variant acts via dominant-positive effect.

The Journal of general physiology·2026
Same author

Protein-enhanced small molecule disruptors of ordered membrane domains.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

PGS Browser: a public platform for personalized polygenic score analysis and interpretation.

Nature communications·2026
Same author

Genetic architecture of 67 oral diseases and their links to systemic diseases.

HGG advances·2026

相关实验视频

Updated: Mar 14, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K

基因门户:将临床,功能和结构证据整合到罕见疾病变异分类中的框架.

Tobias Brünger, Ilona Krey, Suyeon Kim

    medRxiv : the preprint server for health sciences
    |March 13, 2026
    PubMed
    概括

    基因门户集中罕见疾病遗传数据,标准化变体解释. 这个框架整合了各种证据来自动分类和发现孟德尔疾病的分子机制.

    更多相关视频

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
    06:41

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

    Published on: August 20, 2019

    14.4K
    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
    09:34

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

    Published on: April 4, 2018

    35.0K

    相关实验视频

    Last Updated: Mar 14, 2026

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
    09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    10.6K
    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
    06:41

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

    Published on: August 20, 2019

    14.4K
    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
    09:34

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

    Published on: April 4, 2018

    35.0K

    科学领域:

    • 遗传学 是一个遗传学.
    • 生物信息学是一种生物信息学.
    • 医学遗传学 医学遗传学

    背景情况:

    • 罕见的门德尔病影响全球数百万人,需要精确的遗传变异解释.
    • 目前的基因测试面临着挑战,原因是变种分析的分散,基因特异性证据.

    研究的目的:

    • 开发基因门户,基因为中心的知识库的框架,以统一用于罕见疾病变体解释的多式证据.
    • 为了实现自动变体分类,推断分子机制,并支持跨基因分析.

    主要方法:

    • 创建了一个基因为中心的多模式知识库框架,整合了临床数据,功能分析,人口变异和ACMG/AMP规范.
    • 开发了一个模块化接口,将统一的证据与VCEP精制的ACMG规范相结合,用于自动分类.
    • 在五个基因门户中证明了11个与神经发育障碍相关的基因的实用性.

    主要成果:

    • 综合了4423个个体的数据,2838个变异,36149个ClinVar提交和1044个分子读数.
    • SCN,GRIN,CACNA1A,SATB2和SLC6A1基因门户成为广泛使用的社区资源.
    • 该框架促进了标准化的罕见疾病变体解释和机制意识的发现.

    结论:

    • 基因门户为分散的遗传证据提供了一个统一的,可查询的资源,大大改善了罕见疾病变体的解释.
    • 该框架为罕见遗传疾病的标准化分析和发现提供了一个可扩展的模板.
    • 这种方法支持社区驱动的研究和遗传发现的临床应用.