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Updated: Sep 17, 2025

A Blood-based Test for the Detection of ROS1 and RET Fusion Transcripts from Circulating Ribonucleic Acid Using Digital Polymerase Chain Reaction
10:35

A Blood-based Test for the Detection of ROS1 and RET Fusion Transcripts from Circulating Ribonucleic Acid Using Digital Polymerase Chain Reaction

Published on: April 5, 2018

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评估血液转录组分析在先前通过基因组测序评估的儿科队列中的诊断影响

Huayun Hou1, Kyoko E Yuki1,2, Gregory Costain1,3,4,5

  • 1Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.

NPJ genomic medicine
|July 2, 2025
PubMed
概括

RNA测序 (RNA-seq) 通过揭示基因表达变化,有助于诊断罕见的遗传疾病. 这项研究表明,在三分之一的病例中,RNA-seq加强了诊断,并确定了新的遗传原因.

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Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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相关概念视频

Ribosome Profiling02:24

Ribosome Profiling

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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