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

Ligand Binding and Linkage00:49

Ligand Binding and Linkage

4.8K
Allosteric proteins have more than one ligand binding site; the binding of a ligand to any of these sites influences the binding of ligands to the other sites. When a protein is allosteric, its binding sites are called coupled or linked.  In the case of enzymes, the site that binds to the substrate is known as the active site and the other site is known as the regulatory site. When a ligand binds to the regulatory site, this leads to conformational changes in the protein that can influence...
4.8K
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

18.8K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
18.8K
Ligand Binding Sites02:40

Ligand Binding Sites

12.8K
Proteins are dynamic macromolecules that carry out a wide variety of essential processes; however, the activities of most proteins depend on their interactions with other molecules or ions, known as ligands.
Protein-ligand interactions are quite specific; even though numerous potential ligands surround a cellular protein at any given time, only a particular ligand can bind to that protein. Moreover, a ligand binds only to a dedicated area on the surface of the protein, known as the...
12.8K
C4 Pathway and CAM01:27

C4 Pathway and CAM

45.5K
Most plants use the C3 pathway for carbon fixation. However, some plants, such as sugar cane, corn, and cacti that grow in hot conditions, use alternative pathways to fix carbon and conserve energy loss due to photorespiration. Photorespiration is the process that occurs when the oxygen concentration is high. Under such conditions, the rubisco enzyme in the Calvin cycle binds O2 instead of CO2, which halts photosynthesis and consumes energy.
C4 Pathway
The C4 pathway is used by plants such as...
45.5K
Calibration Curves: Linear Least Squares01:20

Calibration Curves: Linear Least Squares

1.3K
A calibration curve is a plot of the instrument's response against a series of known concentrations of a substance. This curve is used to set the instrument response levels, using the substance and its concentrations as standards. Alternatively, or additionally, an equation is fitted to the calibration curve plot and subsequently used to calculate the unknown concentrations of other samples reliably.
For data that follow a straight line, the standard method for fitting is the linear...
1.3K
Structural Classification of Joints01:20

Structural Classification of Joints

3.4K
Joints, also known as articulations, are classified based on their structural characteristics, i.e., based on whether the articulating surfaces of the adjacent bones are directly connected by fibrous connective tissue or cartilage, or whether the articulating surfaces contact each other within a fluid-filled joint cavity. These differences serve to divide the joints of the body into three structural classifications.
A fibrous joint is where the adjacent bones are united by fibrous connective...
3.4K

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

The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications.

bioRxiv : the preprint server for biology·2026
Same author

Expression Atlas in 2026: enabling FAIR and open expression data through community collaboration and integration.

Nucleic acids research·2025
Same author

Taming the reference genome jungle: the refget sequence collection standard.

bioRxiv : the preprint server for biology·2025
Same author

Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice.

Nature communications·2025
Same author

Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres.

Nature genetics·2025
Same author

The International Health Cohorts Consortium (IHCC) advances population health research and genomic discovery.

Communications medicine·2025

相关实验视频

Updated: Jul 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

CMAT:ClinVar映射和注释工具包

April Shen1, Marcos Casado Barbero1, Baron Koylass1

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom.

Bioinformatics advances
|February 22, 2024
PubMed
概括
此摘要是机器生成的。

CMAT精确地丰富了ClinVar人类变异数据与疾病本体学关联. 该软件工具包和协议提高了对遗传变异临床意义和功能后果的理解.

更多相关视频

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.0K
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

相关实验视频

Last Updated: Jul 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.0K
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

科学领域:

  • 基因组学就是基因组学.
  • 生物信息学是一种生物信息学.
  • 临床遗传学 临床遗传学

背景情况:

  • 从临床描述器到疾病结果的语义本体学映射对于理解人类变异至关重要.
  • ClinVar是人类遗传变异的主要资源,具有确定的临床意义.
  • 对遗传变异的准确注释对于临床解释至关重要.

研究的目的:

  • 介绍CMAT (临床映射和注释工具包),一个新的软件工具包和策划协议.
  • 为了能够准确地丰富ClinVar释放与疾病本体学协会.
  • 为了促进对人类遗传变异的复杂功能后果的注释.

主要方法:

  • 开发CMAT软件工具包的开发.
  • 为本体学映射建立一个标准化的策划协议.
  • 将语义映射集成到ClinVar数据发布中.

主要成果:

  • CMAT为临床描述器提供了准确的疾病本体学关联.
  • 该工具包允许对复杂的功能后果进行注释.
  • 丰富的ClinVar释放为遗传变异解释提供了改进的数据.

结论:

  • 通过提供强大的疾病本体学映射,CMAT提高了ClinVar的临床实用性.
  • 该工具包和协议支持更准确地解释人类遗传变异.
  • 对于人类遗传学领域的研究人员和临床医生来说,CMAT是一个宝贵的资源.