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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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Real-World Application of Classical Conditioning01:15

Real-World Application of Classical Conditioning

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Classical conditioning not only includes the initial pairing of stimuli but also extends to more complex forms, such as higher-order conditioning. Higher-order conditioning involves creating associations beyond the primary conditioned stimulus, resulting in a chain of conditioned responses.
Higher-order, or second-order, conditioning occurs when a neutral stimulus becomes associated with an already established conditioned stimulus through repeated pairings. For instance, if a dog has been...
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RNA Interference01:23

RNA Interference

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RNA interference (RNAi) is a process in which a small non-coding RNA molecule blocks the post-transcriptional expression of a gene by binding to its messenger RNA (mRNA) and preventing the protein from being translated.
This process occurs naturally in cells, often through the activity of genomically-encoded microRNAs. Researchers can take advantage of this mechanism by introducing synthetic RNAs to deactivate specific genes for research or therapeutic purposes. For example, RNAi could be used...
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RNA Structure01:23

RNA Structure

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Overview
The basic structure of RNA consists of a five-carbon sugar and one of four nitrogenous bases. Although most RNA is single-stranded, it can form complex secondary and tertiary structures. Such structures play essential roles in the regulation of transcription and translation.
Different Types of RNA Have the Same Basic Structure
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RNA Stability01:53

RNA Stability

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Intact DNA strands can be found in fossils, while scientists sometimes struggle to keep RNA intact under laboratory conditions. The structural variations between RNA and DNA underlie the differences in their stability and longevity. Because DNA is double-stranded, it is inherently more stable. The single-stranded structure of RNA is less stable but also more flexible and can form weak internal bonds. Additionally, most RNAs in the cell are relatively short, while DNA can be up to 250 million...
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RNA Splicing01:32

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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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Identification of Footprints of RNA:Protein Complexes via RNA Immunoprecipitation in Tandem Followed by Sequencing RIPiT-Seq
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基准测试RNA-seq工具用于现实世界诊断应用.

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    RNA测序 (RNA-seq) 工具有助于通过分析异常拼接和基因表达来诊断罕见的儿科神经肌肉疾病. 虽然有价值,但这些计算工具补充,而不是取代,用于确定的诊断的传统DNA测序分析.

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    科学领域:

    • 基因组学就是基因组学.
    • 计算生物学 计算生物学
    • 儿科神经学 儿科神经学

    背景情况:

    • 儿科神经肌肉疾病表现出显著的遗传和临床多样性.
    • 尽管有先进的分子测试,但许多病例仍未被诊断出来.
    • RNA测序 (RNA-seq) 提供了发现遗传变异的功能影响的潜力,但其系统分析正在发展.

    研究的目的:

    • 评估开源计算工具的性能,用于分析RNA-seq数据,用于诊断儿科神经肌肉疾病.
    • 建立在临床诊断环境中利用RNA序列分析工具的最佳实践.
    • 在以前未被诊断的病例中识别新的诊断候选人.

    主要方法:

    • 使用97个诊断样本对八种RNA-seq分析工具 (拼接,表达,等位基不平衡) 的基准测试.
    • 开发一个真相集,以基于转录基因效应对病原性变体进行分类.
    • 在74个未被诊断的患者样本中应用优化的RNA-seq分析策略.

    主要成果:

    • 计算工具在68名先前被诊断为具有异常RNA事件的试验者中确定了28种诊断.
    • 拼接分析工具是最常见的贡献者,而等位基失衡工具提供了独特的诊断.
    • 假阳性率各不相同,在拼接方面最高,在表达式分析工具方面最低.

    结论:

    • RNA-seq分析工具可以加速儿科神经肌肉疾病遗传诊断中的变异解释.
    • 这些工具是DNA测序数据的手动分析的宝贵补充,而不是替代.
    • 需要进一步改进RNA-seq分析策略,以最大限度地提高诊断产量.