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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
There are three main types of ribonucleic acid (RNA): messenger RNA (mRNA), transfer RNA (tRNA), and ribosomal RNA (rRNA). All three RNA types consist of a...
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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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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) 工具通过分析RNA数据以寻找异常拼接和表达,帮助诊断儿科神经肌肉疾病. 虽然有帮助,这些计算工具补充,而不是取代,手动基因分析的确切诊断.

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    科学领域:

    • 遗传学 遗传学 是一个
    • 生物信息学是一种生物信息学.
    • 分子生物学分子生物学

    背景情况:

    • 儿科神经肌肉疾病具有显著的遗传和临床异质性.
    • 许多病例缺乏明确的遗传诊断,尽管有先进的分子测试.
    • RNA测序 (RNA-seq) 提供了分析遗传变异的功能影响的潜力,但其系统的应用需要建立的最佳实践.

    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.
    • 在临床诊断环境中建立RNA-seq分析工具的最佳使用实践.
    • 在未被诊断的儿科神经肌肉疾病病例中使用RNA-seq分析识别新的遗传诊断.

    主要方法:

    • 使用来自97个诊断样本的RNA-seq数据创建了一个真相集,以基准工具性能.
    • 评估了八种常见的RNA-seq分析工具,用于拼接,表达和基失衡.
    • 最佳分析策略应用于74个未被诊断的RNA-seq样本.

    主要成果:

    • 计算工具在68名被诊断出具有异常RNA事件的试验者中,在28名试验者中确定了诊断.
    • 拼接分析工具是最常见的,但基失衡工具提供了独特的见解.
    • 假阳性率各不相同,拼接工具的最高和表达式分析的最低.
    • 在74名未被诊断的患者中,有9名候选变异被确定.

    结论:

    • RNA-seq分析工具可以加速基因诊断中的变异优先级和解释.
    • 这些工具是传统DNA测序和手动分析的宝贵补充.
    • 为了更广泛的临床实用性,需要进一步改进RNA-seq分析策略.