Department of Biostatistics, SUNY at Buffalo, Buffalo, NY 14214, USA.
BMC Bioinformatics. 2013 Jan 16;14:13. doi: 10.1186/1471-2105-14-13.
Gene fusions are the result of chromosomal aberrations and encode chimeric RNA (fusion transcripts) that play an important role in cancer genesis. Recent advances in high throughput transcriptome sequencing have given rise to computational methods for new fusion discovery. The ability to simulate fusion transcripts is essential for testing and improving those tools.
To facilitate this need, we developed FUSIM (FUsion SIMulator), a software tool for simulating fusion transcripts. The simulation of events known to create fusion genes and their resulting chimeric proteins is supported, including inter-chromosome translocation, trans-splicing, complex chromosomal rearrangements, and transcriptional read through events.
FUSIM provides the ability to assemble a dataset of fusion transcripts useful for testing and benchmarking applications in fusion gene discovery.
基因融合是染色体畸变的结果,编码嵌合 RNA(融合转录本),在癌症发生中起着重要作用。高通量转录组测序的最新进展催生了用于新融合发现的计算方法。模拟融合转录本的能力对于测试和改进这些工具至关重要。
为了满足这一需求,我们开发了 FUSIM(融合模拟器),这是一种用于模拟融合转录本的软件工具。支持模拟已知产生融合基因及其嵌合蛋白的事件,包括染色体间易位、反式剪接、复杂染色体重排和转录通读事件。
FUSIM 提供了组装融合转录本数据集的能力,可用于测试和基准测试融合基因发现应用程序。