相关实验视频

Updated: Jun 8, 2025

Unbiased Deep Sequencing of RNA Viruses from Clinical Samples

Unbiased Deep Sequencing of RNA Viruses from Clinical Samples

Published on: July 2, 2016

临床RNA测序澄清了先前测试发现的不确定意义的变异

Jonathan Marquez¹, Jennifer N Cech¹, Cate R Paschal^2,3

¹Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.

Genetics in medicine open

|November 1, 2024

概括

临床RNA测序 (RNA-seq) 有助于澄清不确定的意义 (VUS) 的变异,并识别遗漏的遗传变异. 手动审查RNA-seq数据可以解决不确定的结果,改善基因测试中的诊断产量.

科学领域:

基因组医学是基因组医学.
分子诊断学分子诊断

背景情况:

遗传检测经常遇到不确定意义的变异 (VUS) 或未能识别致病变异.
RNA测序 (RNA-seq) 为在临床环境中解决这些诊断挑战提供了一个潜在的方法.

研究的目的:

评估RNA测序对澄清VUS的临床实用性.
评估RNA测序能够识别传统遗传检测中遗漏的致病变体的能力.

主要方法:

在两年内,对26例转诊临床RNA-seq的病例进行了回顾性审查.
病例包括那些没有确定的变种或可疑影响拼接或表达的VUS.
包括标准由委员会审查;RNA-seq数据在不确定的情况下被手动评估.

主要成果:

在26个提交的案例中,9个成功测序;8个由于表达不佳而无法测序.
临床实验室报告了2个阳性,4个阴性和3个不确定的RNA-seq结果.
对三个不确定案例的手动重新评估提供了解释性发现.

结论:

临床RNA测序可以澄清VUS,特别是拼接变体,但解释准则可能导致不确定的结果.
手动审查RNA-seq数据对于解决模两可的发现至关重要.
识别适合RNA-seq的候选人,并提供遗传咨询,面临着持续的挑战.

关键词:

有关RNA测序的RNA测序临床遗传测试临床遗传测试细菌线检测试验细菌线检测试验拼接的变种拼接的变种不确定意义的变种.

更多相关视频

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

相关概念视频

RNA-seq

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...

Leaky Scanning

Leaky Scanning

During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA. Marilyn Kozak discovered that the sequence RCCAUGG (where R...