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

Genomics02:02

Genomics

36.3K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.3K
Human Genetics01:28

Human Genetics

565
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
565
DNA Microarrays02:34

DNA Microarrays

17.4K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
17.4K
Genetic Screens02:46

Genetic Screens

4.9K
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...
4.9K
Gene Families01:57

Gene Families

8.8K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
8.8K
Organization of Genes02:07

Organization of Genes

68.6K
Overview
68.6K

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

Regulation of NLRP3 inflammasome signaling in Alzheimer's disease: emerging neuroprotective role of phytochemicals.

Inflammopharmacology·2026
Same author

Exploring Communities: Use of Windshield Surveys in Pediatric Residency Education.

Clinical pediatrics·2026
Same author

Integrating computational evaluation and mechanical testing to optimize laser-sintered polyether ketone scaffolds for mandibular reconstruction in large animal models.

Journal of the mechanical behavior of biomedical materials·2026
Same author

Performing multiple biomarker tests delays initiation of amyloid-targeting treatments.

Alzheimer's & dementia (Amsterdam, Netherlands)·2026
Same author

Plasma GDF15 affects long-term dementia risk and alters neuroimmune signaling.

Science advances·2026
Same author

Evaluation of bone formation within β-tricalcium phosphate scaffolds in a sheep scapular bioreactor model using micro-computed tomography analysis.

Regenerative biomaterials·2026

相关实验视频

Updated: Jun 28, 2025

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

9.7K

大脑基因注册表:一个数据快照.

Dustin Baldridge1, Levi Kaster2, Catherine Sancimino3

  • 1Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. dbaldri@wustl.edu.

Journal of neurodevelopmental disorders
|April 17, 2024
PubMed
概括

脑基因注册 (BGR) 是一个新的资源,收集遗传和临床数据,以了解神经发育障碍. 这个倡议旨在通过将遗传变异与特定的大脑疾病联系起来来加速研究.

关键词:
大脑基因注册表大脑基因注册表电子健康记录是电子健康记录.神经发育障碍 神经发育障碍

更多相关视频

Exploring the Effects of Spaceflight on Mouse Physiology using the Open Access NASA GeneLab Platform
11:08

Exploring the Effects of Spaceflight on Mouse Physiology using the Open Access NASA GeneLab Platform

Published on: January 13, 2019

12.3K
Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
13:19

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

Published on: November 2, 2013

16.6K

相关实验视频

Last Updated: Jun 28, 2025

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

9.7K
Exploring the Effects of Spaceflight on Mouse Physiology using the Open Access NASA GeneLab Platform
11:08

Exploring the Effects of Spaceflight on Mouse Physiology using the Open Access NASA GeneLab Platform

Published on: January 13, 2019

12.3K
Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
13:19

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

Published on: November 2, 2013

16.6K

科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 是一个遗传学.
  • 发展生物学 发展生物学

背景情况:

  • 单源性疾病显著导致神经发育障碍.
  • 缺少数据阻碍了在遗传变异和神经发育障碍之间建立因果关系.
  • 现有的研究基础设施是分散的,限制了全面的研究.

研究的目的:

  • 建立大脑基因注册表 (BGR),这是一个基因和表型数据的协作存储库.
  • 促进对神经发育障碍的遗传基础的研究.
  • 加速对与大脑相关疾病的基因疾病关系的理解.

主要方法:

  • 形成一个由13个智力和发育障碍研究中心 (IDDRC) 组成的财团.
  • 临床遗传数据与电子健康记录 (EHR) 和快速神经行为评估协议 (RNAP) 的表型数据的整合.
  • 与ClinGen的GenomeConnect共同注册,以便将变体数据集成到ClinVar.

主要成果:

  • 目前,BGR包括了479名参与者的数据,超过200个基因被代表.
  • 常见的诊断包括发育迟缓,言语/语言障碍,自闭症谱系障碍 (ASD) 和注意力缺陷多动性障碍 (ADHD).
  • 超过30%的变体是de novo,而43%是不确定的意义 (VUS) 的变体.

结论:

  • BGR是一个宝贵的国家资源,用于推进对大脑基因的翻译研究.
  • 该注册表有助于加速神经发育障碍的基因疾病有效性治疗.
  • 持续招募参与者对于构建用于未来研究的全面数据集至关重要.