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相关概念视频

RNA-seq03:21

RNA-seq

10.0K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.0K
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-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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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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相关实验视频

Updated: Jul 10, 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

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rvTWAS:通过利用转录组指导的特征选择来识别使用序列的基因特征关联.

Jingni He1, Qing Li1, Qingrun Zhang1,2,3,4

  • 1Department of Biochemistry and Molecular Biology, University of Calgary, Calgary T2N 1N4, Canada.

Genetics
|November 24, 2023
PubMed
概括
此摘要是机器生成的。

我们开发了罕见变异TWAS (rvTWAS),这是一种新的方法,通过包括罕见变异来确定复杂特征的遗传基础. rvTWAS超越了现有的方法,并揭示了精神疾病的新基因.

关键词:
贝叶斯特征选择选择贝叶斯特征选择基因特征协会映射 基因特征协会映射基于内核的特征聚合.罕见的遗传变异 罕见的遗传变异转录组广泛的关联研究研究.

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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.
  • 计算生物学 计算生物学

背景情况:

  • 全转录组关联研究 (TWAS) 整合了复杂特征遗传学的基因表达数据.
  • 由于预测基因表达的局限性,目前的TWAS方法排除了罕见的变异.

研究的目的:

  • 开发一种新的方法,罕见变异TWAS (rvTWAS),该方法使用基因表达数据将罕见变异纳入关联映射中.
  • 克服现有的TWAS协议的局限性,这些协议排除了罕见的变异.

主要方法:

  • rvTWAS将TWAS分为特征选择和聚合步骤,消除了对表达式预测的需求.
  • 采用贝叶斯模型用于表达式导向的特征选择和内核机器用于特征聚合.
  • 通过模拟和真实世界数据分析验证精神分裂症,双相情感障碍和自闭症谱系障碍的表现.

主要成果:

  • rvTWAS有效地集成了用于关联映射的罕见变体,性能优于现有的TWAS协议.
  • 确定了与精神疾病相关的额外基因.
  • 通过转录调节提出了一种涉及指基因影响精神分裂症,双相情感障碍和自闭症谱系障碍的机制.

结论:

  • rvTWAS扩大了基于序列的关联研究的范围,通过使基因表达数据与罕见变异的集成成为可能.
  • 为剖析复杂特征和疾病的遗传结构提供了一种强大的新工具.