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基因融合及其在癌症研究中的重要性
染色体畸变——尤其是染色体易位和对应的基因融合——目前已确知在肿瘤形成的初始步骤中发挥着重要作用。确定基因融合,有望对于未来的个性化癌症治疗发挥重要影响。利用新一代测序技术,已经从常见癌症患者来源的新鲜冷冻实体肿瘤中发现了罕见的基因融合活动。但由于 FFPE 文库的低复杂度以及相关的生物信息学难题,检测分离自福尔马林固定石蜡包埋(FFPE)肿瘤组织的RNA 的基因融合转录本,仍存在诸多局限。
In collaboration with the OncoNetwork Consortium, we have developed a research method that simplifies the detection of chromosomal translocations. Designed for simplicity and efficiency and to work with limited sample input, this method delivers sensitive, reliable results with ultralow input of FFPE RNA, enabling you to detect fusion transcripts in less than 1% tumor RNA in the presence of 99% normal RNA.
Based on Ion AmpliSeq™ technology, our fusion detection workflow is simple, with reduced cost and complexity compared with alternative fusion detection methods such as whole-transcriptome sequencing and FISH. Based on simple PCR, Ion AmpliSeq™ technology uses high-multiplexing capabilities to enable you to find and view many fusions in a single run. This targeted sequencing approach focuses the sequencing on fusion junctions, increasing the depth of sequencing on informative regions of fusion transcripts. This enables higher sensitivity of detection and greater sequencing efficiency to save both time and money.
"通过这些 Panel,我们最终找到了一种以有限量的单一存档肿瘤样本为其实材料,测定肺癌研究相关的主要突变的方法。"
Nicola Normanno,博士
Director, Research Department Centro di Ricerche Oncologiche di Mercogliano
Mercogliano (AV) and INT-Fondazione Pascale, Naples, Italy
Life Technologies OncoNetwork联盟成员
我们的融合检测解决方案仅需 10 ng 的起始 FFPE RNA,即可采用 Ion PGM™ 系统进行灵敏的融合检测。该系统整合了 Ion Reporter™ 软件,而后者又包含了易用的融合可视化工具、融合分类以及基因表达详情。
Ion Reporter v4.2 软件用于支持 RNA 融合数据分析,可实现按键式融合数据分析,能够实现多样本可视化和基因融合读取水平可视化。
此软件还可创建热图,以显示基因配体间的外显子-外显子边界,同时显示覆盖这些外显子的嵌合 RNA。
仅供研究使用。不可用于诊断操作。