这些试剂减少了测序数据中的背景噪声，能够检测低频变异，如在细胞游离DNA (cfDNA)中发现的变异。
循环肿瘤DNA (ctDNA)可能代表cfDNA的一个非常小的部分，接近下一代测序(NGS)的检测极限。TruSight肿瘤学UMI试剂通过UMIs和纠错软件解决了这一挑战，将错误率降低到0.007%，并能够检测低频变异。较低的错误率增加了分析的特异性，从而提高了NGS数据的可信度。
TruSight肿瘤学UMI试剂包括UMI适配器和标签，以及DNA文库准备和富集试剂。这些试剂也可以与TruSight Tumor 170 DNA寡核苷酸配对。UMIs的集成不会在库准备工作流程中创建任何额外的步骤。
UMI纠错应用程序对读取数据进行对齐，然后使用UMI排除误报，减少变异调用错误。UMI纠错应用可以在基于云的BaseSpace Sequence Hub中使用，也可以在本地安装。
To enable accurate detection of rare variants, UMIs are integrated with error correction software, enabling true mutations to be distinguished from background noise. The bottom panel illustrates how, by removing inherent errors that result in false positives, the reduced error rate allows true mutations (red dots) to be better distinguished from background noise (grey dots).
| Sequencing Run | Mean Error Rate (Uncollapsed Reads) | Mean Error Rate (Collapsed Reads) |
|---|---|---|
| 1 | 0.038% | 0.0023% |
| 2 | 0.043% | 0.0024% |
| 3 | 0.035% | 0.0024% |
| 4 | 0.084% | 0.0019% |
Library preparation was performed using the TruSight Oncology UMI Reagents paired with DNA content from the TruSight Tumor 170 DNA assay, and 31 samples were distributed among four independent sequencing runs on the HiSeq 4000 System. Mean error rates are shown with and without collapsed reads using the UMI Error Correction App.
Detection of low-frequency variants in cfDNA using TruSight Tumor 170 with the TruSight UMI Toolkit
Application Note | PDF 2 MB
Application Note | PDF 2 MB
Options for Circulating cfDNA Control Materials with NGS Analysis
Technical Note | PDF < 1 MB
TruSight Oncology UMI Reagents
Data Sheet | PDF < 1 MB
TruSight Oncology UMI Reagents Support - Documentation & Literature
自定义协议选择器
Generates customized, end-to-end instructions
* Performance on the NovaSeq 6000 System was demonstrated but not extensively tested.
