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

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.9K
Model Approaches for Pharmacokinetic Data: Distributed Parameter Models01:06

Model Approaches for Pharmacokinetic Data: Distributed Parameter Models

242
Pharmacokinetic models are mathematical constructs that represent and predict the time course of drug concentrations in the body, providing meaningful pharmacokinetic parameters. These models are categorized into compartment, physiological, and distributed parameter models.
The distributed parameter models are specifically designed to account for variations and differences in some drug classes. This model is particularly useful for assessing regional concentrations of anticancer or...
242
Classification of Illness01:17

Classification of Illness

8.6K
The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...
8.6K
Model Approaches for Pharmacokinetic Data: Physiological Models01:15

Model Approaches for Pharmacokinetic Data: Physiological Models

249
Physiological models in pharmacokinetics are instrumental in understanding the distribution and elimination of drugs within the body. These models describe the drug concentration within target organs, influenced by factors such as drug uptake, tissue volume, and blood flow. Drug uptake is governed by the partition coefficient, which signifies the drug concentration ratio in tissue to that in the blood. The blood flow rate to a specific tissue is expressed as Qt, and the rate of change in tissue...
249

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

Phosphatidylserine and RhoB connect PI4P and PA metabolism to maintain plasma membrane identity.

The Journal of cell biology·2026
Same author

Genetically supported drug target prioritization for rare diseases.

Genome medicine·2026
Same author

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.

HGG advances·2026
Same author

Interactome mapping in human excitatory neurons reveals novel risk genes and pathways in Alzheimer's disease.

bioRxiv : the preprint server for biology·2026
Same author

Genome-wide detection of human 5' UTR variants that impact protein translation.

American journal of human genetics·2026
Same author

Ancestry-specific performance of variant effect predictors in clinical variant classification.

bioRxiv : the preprint server for biology·2026
Same journal

A human-specific genetic modifier reconfigures large-scale cortical network dynamics underlying behavioral performance.

bioRxiv : the preprint server for biology·2026
Same journal

<i>Staphylococcus aureus</i> uses a eukaryotic-like uridyltransferase to make UDP-GlcNAc for cell wall synthesis.

bioRxiv : the preprint server for biology·2026
Same journal

Dynamic redistribution of eIF4F controls cap-dependent translation initiation.

bioRxiv : the preprint server for biology·2026
Same journal

When does additional information improve accuracy of RNA secondary structure prediction?

bioRxiv : the preprint server for biology·2026
Same journal

Normative brain-state trajectories reveal deviation from healthy aging in Alzheimer's disease.

bioRxiv : the preprint server for biology·2026
Same journal

Noradrenergic infraslow rhythm during sleep is the critical link between heart-rate dynamics and memory consolidation.

bioRxiv : the preprint server for biology·2026
查看所有相关文章

相关实验视频

Updated: Jan 16, 2026

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

14.2K

使用多模式生物医学语言模型预测疾病特异性变体的病原性.

Yilin Liu1,2, David N Cooper3, Haiyuan Yu1,2

  • 1Department of Computational Biology, Cornell University, Ithaca, NY 14853, USA.

bioRxiv : the preprint server for biology
|September 26, 2025
PubMed
概括
此摘要是机器生成的。

疾病特异性变异性致病性预测 (DIVA) 是一种新的深度学习框架. DIVA准确地预测疾病类型和变种有害性,改善遗传疾病诊断.

更多相关视频

Constructing and Visualizing Models using Mime-based Machine-learning Framework
06:19

Constructing and Visualizing Models using Mime-based Machine-learning Framework

Published on: July 22, 2025

2.3K
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

10.3K

相关实验视频

Last Updated: Jan 16, 2026

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

14.2K
Constructing and Visualizing Models using Mime-based Machine-learning Framework
06:19

Constructing and Visualizing Models using Mime-based Machine-learning Framework

Published on: July 22, 2025

2.3K
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

10.3K

科学领域:

  • 基因组学和生物信息学
  • 计算生物学 计算生物学
  • 医疗保健中的机器学习

背景情况:

  • 误解变异对于遗传疾病诊断和风险预测至关重要.
  • 目前的方法缺乏疾病特定的背景,限制了临床效用.
  • 准确的误解变体的解释需要疾病特异性病原性预测.

研究的目的:

  • 引入一个新的深度学习框架,DIVA (疾病特异变体致病性预测).
  • 预测错误变体的疾病类型和有害性概率.
  • 通过结合疾病特异性来增强临床变异解释.

主要方法:

  • DIVA集成了蛋白质序列和与疾病相关的文本注释.
  • 使用两个预训练的语言模型进行信息编码.
  • 采用对比式学习模式,将变体与相关疾病对齐.

主要成果:

  • 在疾病预测准确性方面,DIVA的表现优于现有的基线方法.
  • 对于错误变体的临床策划疾病注释来说,它具有很高的相关性.
  • 纳入AlphaMissense得分可以提高变体有害性预测.

结论:

  • DIVA提供了准确的,特定于疾病的变异性致病性预测.
  • 解决了在临床环境中对上下文感知变体解释的未满足需求.
  • 提供了对预测变种病原性与疾病意识的新见解.