相关实验视频

Updated: May 20, 2025

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Published on: August 4, 2016

通过双重DNA-RNA综合基因组分析测试检测到的基因组变化的真实世界数据分析

Kousuke Watanabe¹, Miho Ogawa¹, Aya Shinozaki-Ushiku^2,3

¹Next-Generation Precision Medicine Development Laboratory, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.

|March 27, 2025

概括

日本首个双DNA-RNA综合基因组分析 (CGP) 试验GenMineTOP显示出高临床效用. 它在91.5%的病例中确定了致癌性改变,揭示了可操作的突变和新型基因放大.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
分子诊断学分子诊断

背景情况:

基因组分析对个性化癌症治疗至关重要.
双DNA-RNA综合基因组分析 (CGP) 测试GenMineTOP是日本首个此类测试获得批准的测试.
评估新型诊断工具的临床实用性至关重要.

研究的目的:

为了评估GenMineTOP双DNA-RNA CGP测试的临床实用性.
在大量癌症病例中分析基因组变化和RNA表达模式.
评估已识别的遗传事件的诊断意义.

主要方法:

使用GenMineTOP双DNA-RNA CGP测试对1356个病例的分析.
实体突变,放大和融合/外显子跳转事件的识别和描述.
对DNA变化和RNA表达水平之间的相关性分析.

主要成果:

在91.5%的病例中,患有瘤性基因组变异.
DNA小组检测出了临床相关的突变和新型基因放大 (例如,KMT2C,ARID1B,GLI1,YAP1).
RNA小组确定了105个融合事件,包括11个NTRK融合,并揭示了特定变化和RNA表达之间的显著相关性.

结论:

双重DNA-RNA CGP测试在现实环境中显示出显著的临床实用性.
该测试可以识别出高比例可操作的基因组变化,并提供对瘤生物学的见解.
这项研究为解释RNA表达数据在基因组分析背景下提供了有价值的资源.

关键词:

国家广播电台 (NTRK) 合并.有关RNA的表达 RNA的表达一个RNA面板的RNA面板.综合基因组分析 (CGP) 是一种全方位的基因组分析.基因融合基因融合

更多相关视频

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

相关概念视频

DNA Microarrays

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...