DNA-based NGS检测基因融合灵敏度、特异性较高,可满足大部分肿瘤患者需求 一项基于DNA-based NGS panel的大样本回顾性研究分析显示,基于DNA-based NGS检测NTRK融合具有81.1%的总体敏感性和99.9%的特异性,证明了DNA-based NGS对NTRK融合进行检测是可行的。...
融合基因DNA和RNA水平上的结构特征决定了融合基因检测,RNA水平远比DNA水平更敏感,更准确,但是样本要求较高。 DNA-based NGS对样本要求相对较低,可联合其他biomarker共同检测,同时DNA层面可检出的罕见融合伴侣、外显子断点融合及基因间融合,但需在RNA或蛋白水平进一步验证。 在临床应用中,全面准确地肿瘤靶基因检测需要临...
结果显示，在DNA-based NGS检测为融合阳性的患者中，RNA-based NGS的检出率为95%（38/40）；在DNA-b...
多项临床研究显示,相较于DNA-based NGS,RNA-based NGS能够多检出8.3%~14.2%的aSVs,通过RNA-based NGS检测,MET剪切变异引起的14号外显子跳跃突变(MET 14跳突)可提升至2.42%。此外,在既往研究中显示,在DNA检测阴性但RNA检测到融合阳性的患者中,约70%~80%患者对靶向治疗响应,可见RNA-based NGS检测到的aSVs与靶...
目前,综合使用二代测序(NGS)进行分子筛选用于非小细胞肺癌(NSCLC)的病理评估被认为是临床实践的标准。对于使用直径1.1 mm冷冻探针取样的肿瘤组织进行NGS的可行性,我们知之甚少。本研究旨在探讨使用直径1.1 m…
RNA-based NGS confirmed oncogenic FGFR2 fusion in 81% (21/26) of positive cases and identified five novel oncogenic fusions. Thirty-five percent (6/17) of the partner genes were located on chromosome 10, with BICC1 being the most common fusion partner, while the rest were distributed ...
分子标签(multiplexedPCR-basedbarcodingofDNA)在NGS中有... Illumina刚推出测序仪的时候,基本上一条lane只能测一个样本,但测序费用非常昂贵。随着通量的提高,一条lane只测一个样本显得有些浪费。后来科学家们想了一个办法,即通过在不同样本的5‘end连接上不同的几个碱基的固定标签序列,然后再添加接头序列和测序引...
The rapid adoption of next-generation sequencing (NGS) (also known as massively parallel sequencing; MPS) techniques has revolutionized the way molecular diagnosis is performed in a clinical diagnostic laboratory. Hundreds to thousands of genes can be analyzed simultaneously, and samples can be ...
目前RNA-based NGS可用于检测 ALK、RET、ROS1、NTRK、NRG1和MET等驱动基因融合。【强烈推荐】 共识三 由RNA-based NGS检测的融合基因可指导NSCLC融合变异相关的靶向治疗。【强烈推荐】 共识四 RNA-based NGS可应用于所有NSCLC人群,同时建议更多关注与融合基因发生频率相关性较高的肺癌患者(如腺癌、女性、不吸烟、肿...
(MRD). This approach could provide the capability to adapt clinical trials in the adjuvant setting in order to optimize risk stratification, and we argue that this objective is achievable with current technologies. Herein, we evaluate contemporary next-generation sequencing (NGS) approaches to ctDNA...