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

Human Genetics01:28

Human Genetics

1.7K
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...
1.7K
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
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

1.2K
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.2K
What is Genetic Engineering?00:49

What is Genetic Engineering?

80.6K
Overview
80.6K
Incomplete Dominance01:43

Incomplete Dominance

30.7K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
30.7K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

9.6K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.6K

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

Disruption of Polycystin Ciliary Localization and Channel Function by Autosomal Dominant Polycystic Kidney Disease-Causing Polycystin-1 Variants.

Journal of the American Society of Nephrology : JASN·2026
Same author

Biological data governance in an age of AI.

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

Phenotypic pleiotropy of missense variants in human B cell confinement receptor P2RY8.

Cell genomics·2025
Same author

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.

Nature communications·2025
Same author

Phenotypic pleiotropy of missense variants in human B cell-confinement receptor P2RY8.

bioRxiv : the preprint server for biology·2025
Same author

PWAS Hub for exploring gene-based associations of common complex diseases.

Genome research·2024
Same journal

Common Principles Underlie Mitochondrial DNA Heteroplasmy Dynamics in the Germline and Soma.

Annual review of genomics and human genetics·2026
Same journal

Human Sex Chromosome Biology in the Genomic Era.

Annual review of genomics and human genetics·2026
Same journal

Beyond TADs and Compartments: Mesoscale Chromatin Folding and Its Dynamics in Transcriptional Regulation.

Annual review of genomics and human genetics·2026
Same journal

Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease.

Annual review of genomics and human genetics·2026
Same journal

How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models.

Annual review of genomics and human genetics·2026
Same journal

Synthetic Regulatory Genomics.

Annual review of genomics and human genetics·2026
查看所有相关文章

相关实验视频

Updated: Feb 27, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K

人类遗传学中的人工智能

Nadav Brandes1

  • 1Center for Human Genetics and Genomics and Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY, USA;

Annual review of genomics and human genetics
|February 25, 2026
PubMed
概括
此摘要是机器生成的。

人工智能 (AI) 正通过将遗传变异映射到表型来彻底改变人类遗传学. 这项技术有助于预测突变后果,识别基因和评估疾病风险.

更多相关视频

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 Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K

相关实验视频

Last Updated: Feb 27, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K
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 Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K

科学领域:

  • 基因组学和生物信息学
  • 计算生物学 计算生物学
  • 人类遗传学 人类遗传学

背景情况:

  • 人工智能 (AI) 能力迅速发展.
  • 人工智能越来越多地应用于理解人类遗传学中遗传变异的影响.
  • 基因型对表型的映射是人工智能应用的一个关键领域.

研究的目的:

  • 审查人工智能的最新进展,以对基因型与表型进行映射.
  • 突出人类遗传学人工智能应用的挑战和未来方向.
  • 强调基础模型和机器学习在遗传分析中的作用.

主要方法:

  • 对人工智能在人类遗传学中的当前文献的综述.
  • 对人工智能应用在预测突变的功能和临床后果方面的分析.
  • 探索人工智能用于识别因果基因和估计疾病风险.

主要成果:

  • 人工智能显著提高了解释遗传变异的能力.
  • 在大型基因组数据集上训练的基础模型显示出越来越多的实用性.
  • 机器学习方法在特定的遗传分析领域仍然占主导地位.

结论:

  • 人工智能为了解基因型-表型关系提供了强大的工具.
  • 未来的进展取决于利用基础模型并应对当前的挑战.
  • 人工智能将进一步改变遗传研究和临床应用.