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

Epigenetic Regulation01:37

Epigenetic Regulation

3.1K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
3.1K

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

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Nature medicine·2026
Same author

Population-scale detection of methylation outliers from long-read genome sequencing.

medRxiv : the preprint server for health sciences·2026
Same author

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks.

medRxiv : the preprint server for health sciences·2026
Same author

A Retinoic Acid Autoregulatory Loop Governing Prefrontal-Motor Arealization.

bioRxiv : the preprint server for biology·2026
Same author

The Landscape of Prostate Tumour Methylation.

Cancer discovery·2026
Same author

Decoding common and rare noncoding variant effects across cellular and developmental contexts.

Nature genetics·2026
Same journal

A native sulfur deposit in Gale crater, Mars.

Science (New York, N.Y.)·2026
Same journal

Coordinated demise of harmful algal blooms.

Science (New York, N.Y.)·2026
Same journal

Genetic effects put into context.

Science (New York, N.Y.)·2026
Same journal

Bacteria share proteins to survive antibiotics.

Science (New York, N.Y.)·2026
Same journal

Impacts shaped Earth's first continents.

Science (New York, N.Y.)·2026
Same journal

Erratum for the Report "Covalently bonded single-molecule junctions with stable and reversible photoswitched conductivity" by C. Jia <i>et al</i>.

Science (New York, N.Y.)·2026
查看所有相关文章

相关实验视频

Updated: Sep 20, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

536

通过深度学习预测表达改变促进子突变

Kishore Jaganathan1, Nicole Ersaro1, Gherman Novakovsky1

  • 1Illumina Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA, USA.

Science (New York, N.Y.)
|May 29, 2025
PubMed
概括
此摘要是机器生成的。

一个新的深度神经网络,PromoterAI,识别了导致罕见遗传疾病的非编码促进体变异. 这些变异影响基因表达,并处于负选择状态,解释了罕见疾病的遗传负担的6%.

更多相关视频

Author Spotlight: Advancing Alzheimer's Research &#8211; Exploring Early Detection and Multi-Omics Approaches
09:47

Author Spotlight: Advancing Alzheimer's Research – Exploring Early Detection and Multi-Omics Approaches

Published on: December 15, 2023

1.3K
Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
03:37

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

919

相关实验视频

Last Updated: Sep 20, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

536
Author Spotlight: Advancing Alzheimer's Research &#8211; Exploring Early Detection and Multi-Omics Approaches
09:47

Author Spotlight: Advancing Alzheimer's Research – Exploring Early Detection and Multi-Omics Approaches

Published on: December 15, 2023

1.3K
Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
03:37

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

919

科学领域:

  • 遗传学
  • 生物信息学
  • 基因组学

背景情况:

  • 只有少数罕见的遗传疾病被诊断出来.
  • 在非编码DNA序列中可能存在未被识别的致病变体.

研究的目的:

  • 开发一个深度神经网络,PromoterAI,用于识别失调基因表达的非编码促进体变体.
  • 评估这些变异对基因表达及其在罕见疾病中的作用.

主要方法:

  • 开发了一种深度神经网络,用于预测表达改变的促进体变体.
  • 分析了成千上万个人的RNA和蛋白质表达数据.
  • 研究了对这些变体的负选择.
  • 使用报告测试验证功能影响.

主要成果:

  • 激发器AI准确地识别了非编码激发器变体.
  • 预测表达改变后果的变体显示异常表达水平.
  • 这些变种在人类群体中受到强烈的负面选择.
  • 罕见疾病患者的临床相关基因对这些变异具有丰富性.

结论:

  • 非编码促进体变异对罕见的遗传疾病有显著的贡献.
  • 促进器AI是诊断罕见遗传疾病的宝贵工具.
  • 发起者变异约占罕见疾病遗传负担的6%.