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相关概念视频

RNA-seq03:21

RNA-seq

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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...
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Multi-species Conserved Sequences02:51

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
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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.
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lncRNA - Long Non-coding RNAs02:39

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Next-generation Sequencing03:00

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
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RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Updated: Sep 2, 2025

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通过长读测序揭示的人体组织的转录组变异

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这项研究引入了大型长读RNA-seq数据集,以分析对转录结构的遗传影响. 它识别了新的转录,并开发了了解遗传变异如何影响基因表达和拼接的工具.

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科学领域:

  • 基因组学
  • 转录组学
  • 生物信息学

背景情况:

  • 转录结构调节对人类健康和疾病至关重要.
  • 长读测序技术可以更深入地研究基因变异在转录结构中的作用.

研究的目的:

  • 创建和分析一个全面的人类长读RNA-seq数据集.
  • 识别新型转录并了解遗传变异对转录组的影响.
  • 开发用于分析基因特异表达和转录结构的计算工具.

主要方法:

  • 使用88个GTEx样本的牛津纳米孔技术生成大型人类长读RNA-seq数据集.
  • 识别和验证新的成绩单
  • 开发LORALS计算包,用于长读数的等位基因特异性分析.
  • 通过PTBP1 knockdown破坏转录结构.

主要成果:

  • 识别了超过7万种新型的转录,其中10%的蛋白质表达得到了验证.
  • 基因特异性表达和转录结构事件的特征.
  • 由细胞环境改变的遗传调节效应的证明.
  • 对影响拼接的罕见变体进行增强的变体解释.

结论:

  • 长读测序为研究转录结构和遗传变异提供了高分辨率.
  • 通过LORALS组件,便于对转录组的遗传影响进行分析.
  • 这一数据集和方法提升了对转录多样性,疾病和变体解释的理解.