FACTERA: a practical method for the discovery of genomic rearrangements at breakpoint resolution
FACTERA: a practical method for the discovery of genomic rearrangements at breakpoint resolution
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DOI：
10.1093/bioinformatics/btu549
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发表时间：
2014-12-01
期刊：
影响因子：
5.8
通讯作者：
Alizadeh, Ash A.
中科院分区：
文献类型：
--
作者：
Newman, Aaron M.;Bratman, Scott V.;Alizadeh, Ash A.
摘要：为了从目标双端 DNA 测序数据中实用、稳健地从头鉴定基因组融合和断点，我们开发了融合和染色体易位枚举和恢复算法 (FACTERA)。我们的方法具有最小的外部依赖性，直接作用于预先存在的二进制对齐/映射文件并生成易于解释的输出。我们证明了 FACTERA 能够以高灵敏度和特异性快速识别非小细胞肺癌患者的断点分辨率融合事件，包括新的重排。我们预计 FACTERA 将广泛应用于从靶向和全基因组测序数据集中发现和分析临床相关融合。
A Summary: For practical and robust de novo identification of genomic fusions and breakpoints from targeted paired-end DNA sequencing data, we developed Fusion And Chromosomal Translocation Enumeration and Recovery Algorithm (FACTERA). Our method has minimal external dependencies, works directly on a preexisting Binary Alignment/Map file and produces easily interpretable output. We demonstrate FACTERA's ability to rapidly identify breakpoint-resolution fusion events with high sensitivity and specificity in patients with non-small cell lung cancer, including novel rearrangements. We anticipate that FACTERA will be broadly applicable to the discovery and analysis of clinically relevant fusions from both targeted and genome-wide sequencing datasets.