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関連する概念動画

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 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

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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関連する実験動画

Updated: Feb 7, 2026

Identification of Footprints of RNA:Protein Complexes via RNA Immunoprecipitation in Tandem Followed by Sequencing RIPiT-Seq
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Identification of Footprints of RNA:Protein Complexes via RNA Immunoprecipitation in Tandem Followed by Sequencing RIPiT-Seq

Published on: July 10, 2019

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小児神経筋疾患の診断におけるRNAシーケンシングツールのベンチマーキング

Sarah Silverstein, Kaushik Ganapathy, Sandra Donkervoort

    Research square
    |February 6, 2026
    PubMed
    まとめ

    RNAシーケンシング（RNA-seq）ツールは、異常なスプライシングと遺伝子発現を分析することにより、まれな小児神経筋疾患の診断を支援します。これらの計算ツールは、確定診断のための従来のDNAシーケンシング分析を補完するものであり、置き換えるものではありません。

    キーワード:
    RNAシーケンシング診断ツール小児神経筋疾患遺伝子変異スプライシング分析遺伝子発現分析

    さらに関連する動画

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    Depletion of Ribosomal RNA for Mosquito Gut Metagenomic RNA-seq
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    関連する実験動画

    Last Updated: Feb 7, 2026

    Identification of Footprints of RNA:Protein Complexes via RNA Immunoprecipitation in Tandem Followed by Sequencing RIPiT-Seq
    09:26

    Identification of Footprints of RNA:Protein Complexes via RNA Immunoprecipitation in Tandem Followed by Sequencing RIPiT-Seq

    Published on: July 10, 2019

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    Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes
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    Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes

    Published on: November 7, 2025

    394
    Depletion of Ribosomal RNA for Mosquito Gut Metagenomic RNA-seq
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    Depletion of Ribosomal RNA for Mosquito Gut Metagenomic RNA-seq

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    科学分野:

    • ゲノミクス
    • 計算生物学
    • 小児神経学

    背景:

    • 小児神経筋疾患は、著しい遺伝的および臨床的多様性を示します。
    • 高度な分子検査にもかかわらず、多くの症例は未診断のままです。
    • RNAシーケンシング（RNA-seq）は、遺伝子変異の機能的影響を明らかにする可能性を提供しますが、その体系的な分析は進化しています。

    研究 の 目的:

    • 小児神経筋疾患の診断におけるRNAシーケンスデータの分析のためのオープンソース計算ツールのパフォーマンスを評価すること。
    • 臨床診断設定におけるRNAシーケンス分析ツールの利用に関するベストプラクティスを確立すること。
    • 以前に診断されていない症例における新しい診断候補を特定すること。

    主な方法:

    • 97の診断済み検体を使用した8つのRNAシーケンス分析ツール（スプライシング、発現、アレル不均衡）のベンチマーキング。
    • 転写産物効果に基づいて病原性変異を分類するための真実セットの開発。
    • 74の未診断患者検体への最適化されたRNAシーケンス分析戦略の適用。

    主要な成果:

    • 計算ツールは、異常なRNAイベントを持つ以前に診断された68人の検体を対象に28の診断を特定しました。
    • スプライシング分析ツールが最も頻繁に貢献し、アレル不均衡ツールは独自の診断を提供しました。
    • 偽陽性率は変動し、スプライシングで最も高く、発現分析ツールで最も低くなりました。

    結論:

    • RNAシーケンス分析ツールは、小児神経筋疾患の遺伝子診断における変異解釈を加速することができます。
    • これらのツールは、DNAシーケンスデータの мануальный анализ を補完するものであり、置き換えるものではありません。
    • 診断収量を最大化するには、RNAシーケンス分析戦略のさらなる改善が必要です。