BreakFusion：基于靶向组装的全转录组配对末端测序数据中基因融合的鉴定。
BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data.
机构信息
Department of Bioinformatics and Computational Biology, UT MD Anderson Cancer Center, Houston, TX, USA.
出版信息
Bioinformatics. 2012 Jul 15;28(14):1923-4. doi: 10.1093/bioinformatics/bts272. Epub 2012 May 4.
Abstract
UNLABELLED
Despite recent progress, computational tools that identify gene fusions from next-generation whole transcriptome sequencing data are often limited in accuracy and scalability. Here, we present a software package, BreakFusion that combines the strength of reference alignment followed by read-pair analysis and de novo assembly to achieve a good balance in sensitivity, specificity and computational efficiency.
AVAILABILITY
摘要
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尽管最近取得了进展，但从下一代全转录组测序数据中识别基因融合的计算工具在准确性和可扩展性方面往往受到限制。在这里，我们介绍了一个软件包 BreakFusion，它结合了参考比对、读对分析和从头组装的优势，在灵敏度、特异性和计算效率方面取得了很好的平衡。
可用性
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