Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

RNA-seq03:21

RNA-seq

12.1K
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...
12.1K
Real-World Application of Classical Conditioning01:15

Real-World Application of Classical Conditioning

1.4K
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...
1.4K
RNA Interference01:23

RNA Interference

28.1K
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...
28.1K
RNA Structure01:23

RNA Structure

79.2K
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...
79.2K
RNA Stability01:53

RNA Stability

35.8K
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...
35.8K
RNA Splicing01:32

RNA Splicing

60.7K
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...
60.7K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

Use of organ transplant solution to preserve skeletal muscle for cellular and spatial transcriptomic analyses.

Scientific reports·2026
Same author

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

medRxiv : the preprint server for health sciences·2026
Same author

A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

medRxiv : the preprint server for health sciences·2026
Same author

Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.

American journal of human genetics·2026
Same author

Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders.

JCI insight·2026
Same author

Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism.

bioRxiv : the preprint server for biology·2026

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
09:26

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

Published on: July 10, 2019

11.2K

小児神経筋疾患診断のためのRNAシーケンシングツールに関するベンチマーキング

Sarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort

    medRxiv : the preprint server for health sciences
    |February 6, 2026
    PubMed
    まとめ

    RNAシーケンシング(RNA-seq)ツールは、RNAデータを異常スプライシングおよび発現のために分析することにより、小児神経筋疾患の診断を支援します。これらは役立ちますが、確定診断のための手動遺伝子分析に取って代わるものではなく、補完するものです。

    キーワード:
    RNAシーケンシング小児神経筋疾患診断バイオインフォマティクススプライシング遺伝子解析

    さらに関連する動画

    Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes
    05:07

    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
    06:21

    Depletion of Ribosomal RNA for Mosquito Gut Metagenomic RNA-seq

    Published on: April 7, 2013

    20.2K

    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

    11.2K
    Rup (RNA-seq Usability Assessment Pipeline) - Quality Control for Bulk RNA-seq Experiments in Eukaryotes
    05:07

    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
    06:21

    Depletion of Ribosomal RNA for Mosquito Gut Metagenomic RNA-seq

    Published on: April 7, 2013

    20.2K

    科学分野:

    • 遺伝学;バイオインフォマティクス;分子生物学

    背景:

    • 小児神経筋疾患は、著しい遺伝的および臨床的異質性を示します。高度な分子検査にもかかわらず、多くの症例で確定的な遺伝子診断がされていません。RNAシーケンシング(RNA-seq)は、遺伝子変異の機能的影響を分析する可能性を提供しますが、その体系的な適用には確立されたベストプラクティスが必要です。

    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最適な使用方法を確立すること。RNAシーケンス分析を使用した未診断の小児神経筋疾患症例における新規遺伝子診断を特定すること。

    主な方法:

    • 8人の一般的なRNAシーケンス分析ツール(スプライシング、発現、対立遺伝子不均衡)を評価しました。最適な分析戦略を74人の未診断RNAシーケンスサンプルに適用しました。

    主要な成果:

    • 計算ツールは、異常RNAイベントを持つ68人の診断済み検体のうち28人で診断を特定しました。スプライシング解析ツールが最も一般的でしたが、対立遺伝子不均衡ツールは独自の洞察を提供しました。偽陽性率は変動し、スプライシングツールが最も高く、発現解析が最も低くなりました。74人の未診断患者のうち9人で候補変異体が同定されました。

    結論:

    • RNAシーケンス分析ツールは、遺伝子診断における変異体優先順位付けと解釈を加速できます。これらのツールは、従来のDNAシーケンスと手動分析の貴重な補完として機能します。より広範な臨床的有用性のために、RNAシーケンス分析戦略のさらなる洗練が必要です。