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

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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...
Human Virome01:26

Human Virome

The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible only with...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Genomics02:02

Genomics

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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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

Fanconi Anemia as a Window into Premalignant Field Cancerization of the Oral Mucosa.

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

Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch Syndrome.

European journal of human genetics : EJHG·2026
Same author

Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers.

Familial cancer·2026
Same author

Tracking Cytopenias in <i>FANCA</i>-deficient Fanconi Anemia.

medRxiv : the preprint server for health sciences·2025
Same author

Age-specific trends in colorectal, appendiceal, and anal tumour incidence by histological subtype in Australia from 1990 to 2020: a population-based time-series analysis.

The Lancet regional health. Western Pacific·2025
Same author

The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures.

Familial cancer·2025
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: Jun 28, 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

这是遗传学. 人类多样体项目.

Richard G H Cotton1, Arleen D Auerbach, Myles Axton

  • 1Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia. cotton@unimelb.edu.au

Science (New York, N.Y.)
|November 8, 2008
PubMed
概括
此摘要是机器生成的。

一项新的倡议是收集和组织对影响人类健康的遗传变异的数据. 这些有价值的信息正变得越来越容易被世界各地的研究人员所获取.

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

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

相关实验视频

Last Updated: Jun 28, 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

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

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

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.
  • 基因组医学是基因组医学.

背景情况:

  • 遗传变异对于理解人类健康和疾病至关重要.
  • 之前整合这些数据的努力是分散的.
  • 需要一个全面的资源来加速研究.

研究的目的:

  • 建立一个集中,可访问的遗传变异数据存储库.
  • 为了促进基因型-表型关系的研究.
  • 为了支持精准医学倡议.

主要方法:

  • 开发强大的数据收集和策划管道.
  • 实施标准化的数据格式和本体学.
  • 创建用户友好的数据访问和分析平台.

主要成果:

  • 在数据采集和整合方面取得了重大进展.
  • 最初的数据集包括越来越多的遗传变异.
  • 早期的用户反表明了平台的实用性.

结论:

  • 创建一个全面的遗传变异数据库的计划正在取得进展.
  • 这种资源有望成为科学界的宝贵资产.
  • 增加遗传数据的可访问性将推动健康研究向前发展.