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Updated: Jun 13, 2025

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使用以RNA测序为中心的方法,识别孟德尔乱中的诊断候选者

Carolina Jaramillo Oquendo1, Htoo A Wai1, Wil I Rich1

  • 1Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.

Genome medicine
|September 9, 2024
PubMed
概括

RNA测序 (RNA-seq) 通过识别异常基因表达和拼接,有助于诊断罕见的遗传疾病. 这项研究表明,RNA-seq可以在缺乏未知意义的先前变异 (VUSs) 的患者中发现新的诊断.

关键词:
诊断 诊断 诊断 诊断表达方式表达方式表达在RNA-seqqq.罕见疾病是一种罕见的疾病.拼接 拼接 拼接 拼接

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相关概念视频

RNA-seq03:21

RNA-seq

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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