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相关概念视频

Epistasis Analysis01:09

Epistasis Analysis

5.0K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.0K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.3K
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...
13.3K
Incomplete Dominance01:43

Incomplete Dominance

22.5K
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.
22.5K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
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%...
17.7K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

352
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...
352
Genetic Variation01:25

Genetic Variation

273
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,...
273

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相关实验视频

Updated: Jun 23, 2025

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

Published on: August 21, 2016

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基因分析发现高度互动的基因变异是多基因特征的基础.

Gao Wang1, Jurg Ott2

  • 1Columbia University, New York.

Medical research archives
|June 17, 2024
PubMed
概括

这项研究引入了一种新的方法,用于在遗传学研究中分析基因基因型模式. 该方法识别了显著相互关联的遗传变异,揭示了对诸如与年龄相关的黄斑变性和帕金森病等疾病复杂疾病架构的见解.

科学领域:

  • 统计遗传学 统计遗传学
  • 计算生物学是一种计算生物学.
  • 基因组学就是基因组学.

背景情况:

  • 基因基因型模式涉及来自不同DNA变异的两个基因型.
  • 了解复杂的遗传结构对于疾病研究至关重要.
  • 以前的方法可能无法完全捕捉变体相互作用.

研究的目的:

  • 提出和验证一种新的计算方法,用于挖掘基因基因型模式.
  • 识别与复杂疾病相关的相互关联的遗传变异.
  • 评估与年龄相关的黄斑变性 (AMD) 和帕金森病 (PD) 的遗传结构.

主要方法:

  • 在案例控制研究中评估所有可能的基因型对.
  • 使用高性能计算来分配工作负载.
  • 计算基因型对的频率差异和变体连接性.
  • 应用基于换的方法来确定经验意义水平.

主要成果:

  • 与年龄相关的黄斑变性 (AMD) 数据显示,与帕金森病 (PD) 数据相比,变体相互联系性更高.
  • 确定了12个重要的,高度相关的AMD变体和8个PD变体.
  • 一些已识别的变体与其他机器学习方法发现的变体保持一致.

更多相关视频

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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

Published on: April 4, 2018

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相关实验视频

Last Updated: Jun 23, 2025

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

Published on: August 21, 2016

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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

Published on: April 4, 2018

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  • 显著的变异表明了广泛的联系,高达AMD的7,093个和PD的3,777个.
  • 结论:

    • 开发的统计遗传学方法为多基因特征的遗传结构提供了宝贵的见解.
    • 免费使用的软件"Digenic Network Test"有助于这种方法的应用.
    • 这种方法有助于揭示与AMD和PD等疾病相关的复杂遗传相互作用.