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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Polygenic Traits01:18

Polygenic Traits

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Ribosome Profiling02:24

Ribosome Profiling

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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
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Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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DNA Microarrays02:34

DNA Microarrays

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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Probability Laws01:49

Probability Laws

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相关实验视频

Updated: Jul 17, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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一种贝叶斯方法,用于估计基因水平的多基因性在全转录组协会研究的框架下.

Arunabha Majumdar1, Bogdan Pasaniuc2

  • 1Department of Mathematics, Indian Institute of Technology Hyderabad, Kandi, Telangana, India.

Statistics in medicine
|August 29, 2023
PubMed
概括

我们介绍了基因多元,贝叶斯的方法来估计基因水平的多元性,揭示了影响复杂特征的基因的比例. 这种方法增强了对遗传结构的理解,高度是最多基因的,喘是最少的.

关键词:
美国MCMCMCMCMCMCMCMC复杂的特征基因组学 复杂的特征基因组学基因水平的关联是基因水平的关联.层次结构模型的模型.在之前的尖峰和板块之前.

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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A Novel Bayesian Change-point Algorithm for Genome-wide Analysis of Diverse ChIPseq Data Types
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A Novel Bayesian Change-point Algorithm for Genome-wide Analysis of Diverse ChIPseq Data Types

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Last Updated: Jul 17, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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科学领域:

  • 遗传学 遗传学 是一个
  • 统计遗传学 统计遗传学
  • 生物信息学是一种生物信息学.

背景情况:

  • 多遗传性,即多个遗传变异对复杂特征的影响,通常在单核酸多态化 (SNP) 层面上进行评估.
  • 在基因水平上估计多基因性为理解特征架构提供了更大的生物相关性.
  • 转录组广泛关联研究 (TWAS) 为基因水平的基因分析提供了一个框架.

研究的目的:

  • 引入基因水平多基因性概念,定义为对复杂特征产生非零效应的基因的比例.
  • 开发和验证贝叶斯统计方法,命名为基因多元,用于估计基因水平的多元性.
  • 用基因为中心的方法识别显著贡献复杂特征的基因子集.

主要方法:

  • 开发了一种贝叶斯的方法 (基因断),利用尖峰和板块先验来估计基因水平的多基因性.
  • 模拟数据用于评估基因多聚在估计多基因性和识别非无效基因方面的表现.
  • 将基因断应用于英国生物库数据的七种表型,整合基因表达数据.

主要成果:

  • genepoly有效地估计了基因水平的多基因性,并识别了具有高特异性和良好的敏感性的非零基因.
  • 该方法的准确性随着更大的基因组广泛关联研究 (GWAS) 样本大小和参考表达面板大小的提高.
  • 身高被确定为最多基因的特征,而喘在分析的表型中被发现是最不多基因的.

结论:

  • 基因层次的多基因性为复杂特征的遗传架构提供了一个生物学上有意义的衡量标准.
  • 基因多元化方法为估计基因水平多元性和发现特征相关基因提供了强大的工具.
  • 这些发现突显了特征之间的差异性多基因性,高度表现出广泛的遗传影响,喘在基因水平上显示出更有限的遗传贡献.