BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data
BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data
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DOI：
10.1093/bioinformatics/bts272
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发表时间：
2012-07-15
期刊：
影响因子：
5.8
通讯作者：
Ding, Li
中科院分区：
文献类型：
--
作者：
Chen, Ken;Wallis, John W.;Ding, Li
尽管近期取得了一些进展，但从新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存在局限性。在此，我们介绍一款软件包BreakFusion，它结合了参考序列比对以及随后的双端测序读段分析和从头组装的优势，在敏感性、特异性和计算效率方面达到了良好的平衡。
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.