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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.2K
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
Genomics02:02

Genomics

39.6K
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...
39.6K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.5K
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%...
18.5K
Incomplete Dominance01:43

Incomplete Dominance

29.6K
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.
29.6K
Human Genetics01:28

Human Genetics

1.4K
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...
1.4K

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

SOPA and SIMPA: normalized single-sample integrated multiomics pathway analysis of tumor heterogeneity in solid cancers.

Briefings in bioinformatics·2026
Same author

A historical journey of metabolite-protein interaction discovery: from data harmonization to AI-driven prediction.

Briefings in bioinformatics·2026
Same author

Post-discharge "continuum of care" clinical pathway (CP) for persons with severe neuro-disabilities - qualitative research to model needs-based community healthcare, capture the real-life care situation, and assess the appropriateness of the CP's concept with input from community- and hospital-based healthcare professionals.

Frontiers in neurology·2026
Same author

GBP1 recruitment to actin-rich pedestals of extracellular Gram-negative bacteria promotes pyroptosis.

The EMBO journal·2026
Same author

Human Endogenous Retroviruses in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Emerging Roles in Pathogenesis, Immunity, Biomarkers and Therapeutics.

International journal of molecular sciences·2026
Same author

Reduction techniques for survival analysis.

Lifetime data analysis·2026

相关实验视频

Updated: Jan 10, 2026

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

21.2K

解码非编码SNP:系统基因组学建模剖析IBD的异质性.

Dezső Módos1,2,3,4,5, John P Thomas2,6, Johanne Brooks-Warburton3,4,7,8

  • 1Division of Systems Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.

Molecular systems biology
|November 26, 2025
PubMed
概括

这项研究引入了一种新的系统基因组学方法,以了解遗传变异如何影响复杂的免疫媒介炎症疾病 (IMIDs). 该方法将非编码单核酸多态 (SNP) 与疾病途径联系起来,有助于精确医学治疗诸如克罗恩病和性结肠炎等疾病.

关键词:
炎症性肠道疾病 炎症性肠病网络传播 网络传播精准医学是一门精准的医学.单核酸多态化的一核酸多态化系统基因组学 系统基因组学

更多相关视频

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

34.5K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K

相关实验视频

Last Updated: Jan 10, 2026

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

21.2K
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

34.5K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K

科学领域:

  • 基因组学就是基因组学.
  • 系统生物学 系统生物学
  • 免疫学 免疫学 免疫学

背景情况:

  • 全基因组关联研究 (GWAS) 识别了复杂疾病的基因位置,如免疫介导炎症性疾病 (IMID).
  • 解释与IMID相关的非编码单核酸多态 (SNP) 的功能影响是具有挑战性的,因为效果大小和多基因性很低.
  • 了解遗传变异与疾病机制之间的联系对于开发有效治疗方法至关重要.

研究的目的:

  • 开发和应用一种新的系统基因组学方法来建模非编码SNP对细胞信号传递和基因调控网络的累积影响.
  • 调查克罗恩病 (CD) 和性结肠炎 (UC),炎症性肠病 (IBD) 的形式的病理机制.
  • 弥合基因型和表型之间的差距,以在复杂的免疫介导炎症疾病中推进精准医学.

主要方法:

  • 开发了一种系统基因组学方法,以建模非编码SNP的累积效应.
  • 该方法用于分析2636名克罗恩病和性结肠炎患者的基因组.
  • 分析的重点是SNP信号如何通过信号和基因调节网络传播.

主要成果:

  • 发现非编码的SNP在克罗恩病和性结肠炎中传播信号向已知的和新的致病途径.
  • 通过SNP传播的基因调节网络成功地将患者分为不同的集群.
  • 这些群体对应于细胞类型特定的基因失调,并预测了潜在的治疗反应.

结论:

  • 新型系统基因组学方法有效地将非编码的遗传变异与复杂的疾病途径联系起来.
  • 这种方法为了解免疫介导炎症疾病中的基因型-表型关系提供了一个框架.
  • 这些发现为加速精准医学策略在复杂的免疫介导炎症疾病中的基础.