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RNA-seq03:21

RNA-seq

10.3K
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

Multi-species Conserved Sequences

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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.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
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lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

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Next-generation Sequencing03:00

Next-generation Sequencing

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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
Although all next-generation methods use different technologies, they all share a set of standard features....
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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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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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ヒト組織におけるトランスクリプトームの変異は,ロングリードシーケンシングによって明らかになった.

Dafni A Glinos1,2, Garrett Garborcauskas3, Paul Hoffman4

  • 1New York Genome Center, New York, NY, USA. dafni.glinos@gmail.com.

Nature
|August 3, 2022
PubMed
まとめ
この要約は機械生成です。

この研究では,トランスクリプト構造に対する遺伝効果を分析するために,大規模なロングリードRNA-seqデータセットを導入しています. 新しいトランスクリプトを特定し,遺伝子変異が遺伝子発現とスプライシングにどのように影響するか理解するためのツールを開発しています.

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科学分野:

  • ゲノミクス
  • トランスクリプトミクス
  • バイオ情報学

背景:

  • トランスクリプト構造の調節は人間の健康と病気にとって極めて重要です.
  • ロングリードシーケンシング技術は,トランスクリプト構造における遺伝的多様性の役割をより深く調査することができます.

研究 の 目的:

  • 総合的な人間のロングリードRNA-seqデータセットを作成し,分析する.
  • 新しいトランスクリプトを特定し,トランスクリプトームに遺伝的変異の影響を理解する.
  • アレル特異的な表現とトランスクリプト構造を分析するための計算ツールを開発する.

主な方法:

  • 88のGTExサンプルからオックスフォード・ナノポア・テクノロジーを用いて,大規模なヒトのロングリードRNA-seqデータセットの生成.
  • 新しいトランスクリプトの識別と検証
  • ロングリーズのアレル特異分析のためのLORALS計算パッケージの開発.
  • PTBP1のノックダウンによるトランスクリプト構造の混乱

主要な成果:

  • タンパク質発現の10%を検証した 7万以上の新しいトランスクリプトの識別
  • アレル特異的な発現とトランスクリプト構造の特徴.
  • 細胞環境によって変化した遺伝的調節効果の実証.
  • スプライシングに影響を与える稀な変異の改良された変異解釈

結論:

  • ロングリードシーケンシングは,トランスクリプト構造と遺伝的多様性を研究するために高解像度を提供します.
  • LORALSパッケージは,トランスクリプトームに対する遺伝効果の分析を容易にする.
  • このデータセットと方法論は,トランスクリプトの多様性,疾患,および変種解釈の理解を進める.