A Novel Method for Fusion Gene Detection using Both End-Fragment Sequences of Long Reads
A Novel Method for Fusion Gene Detection using Both End-Fragment Sequences of Long Reads
复制标题
DOI：
10.1145/3574198.3574212
复制
发表时间：
2022-11
期刊：
影响因子：
--
通讯作者：
Keigo Masuda;Yoshiaki Sota;H. Matsuda
中科院分区：
文献类型：
--
作者：
Keigo Masuda;Yoshiaki Sota;H. Matsuda
融合基因是重要的肿瘤诊断标志物和治疗靶点。长读转录组测序已经可用，并有望通过融合基因检测应用。然而，由于测序具有较高的测序错误率，因此需要提高融合基因检测的性能。在这项研究中，我们已经提出了FLIPs（全长和两端对齐）的方法来检测融合基因使用片段序列提取的两端的长阅读成绩单。我们已经使用模拟数据评估了基因检测性能。结果表明，所提出的方法表现良好的模拟数据与序列同一性比率对应的错误率的长读测序。
Fusion genes are important diagnostic biomarkers and targets for therapy in cancer. Long-read transcriptome sequencing has become available and is expected to be applied through fusion gene detection. However, since the sequencing has higher sequencing error rates, it is demanded to improve the performance of fusion gene detection. In this study, we have proposed the FLBEA (Full-Length and Both-Ends Alignment) method to detect fusion genes using fragment sequences extracted from both ends of long-read transcripts. We have evaluated gene detection performance using simulated data. The results exhibit that the proposed method performed well for the simulated data with sequence identity ratios corresponding to the error rates of the long-read sequencing.