Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data.

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data.
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DOI:
10.1186/s13059-014-0558-0
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发表时间:
2015-01-05
期刊:
影响因子:
12.3
通讯作者:
Thomas RK
Thomas RK
中科院分区:
生物学1区
文献类型:
--
作者:
Fernandez-Cuesta L;Sun R;Menon R;George J;Lorenz S;Meza-Zepeda LA;Peifer M;Plenker D;Heuckmann JM;Leenders F;Zander T;Dahmen I;Koker M;Schöttle J;Ullrich RT;Altmüller J;Becker C;Nürnberg P;Seidel H;Böhm D;Göke F;Ansén S;Russell PA;Wright GM;Wainer Z;Solomon B;Petersen I;Clement JH;Sänger J;Brustugun OT;Helland Å;Solberg S;Lund-Iversen M;Buettner R;Wolf J;Brambilla E;Vingron M;Perner S;Haas SA;Thomas RK

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基因组易位事件经常通过产生具有致癌特性的基因融合而成为癌症发展的基础。通过转录组测序鉴定这种融合转录物可能有助于发现新的潜在治疗靶点。我们开发了TRUP(Tumor-specimen suitable RNA-seq Unified Pipeline)(https://github.com/ruping/TRUP),这是一种计算方法,其将分裂读取和读取对分析与从头组装相结合,用于鉴定癌症标本中的嵌合转录物。我们将TRUP应用于不同肿瘤类型的RNA-seq数据,并发现它在检测嵌合转录物方面比其他工具更敏感,例如EML 4-ALK阳性肺肿瘤中的继发性重排或影响RASSF 8的复发性失活重排。本文的在线版本(doi:10.1186/s13059-014-0558-0)包含补充材料,可供授权用户使用。
Genomic translocation events frequently underlie cancer development through generation of gene fusions with oncogenic properties. Identification of such fusion transcripts by transcriptome sequencing might help to discover new potential therapeutic targets. We developed TRUP (Tumor-specimen suited RNA-seq Unified Pipeline) (https://github.com/ruping/TRUP), a computational approach that combines split-read and read-pair analysis with de novo assembly for the identification of chimeric transcripts in cancer specimens. We apply TRUP to RNA-seq data of different tumor types, and find it to be more sensitive than alternative tools in detecting chimeric transcripts, such as secondary rearrangements in EML4-ALK-positive lung tumors, or recurrent inactivating rearrangements affecting RASSF8. The online version of this article (doi:10.1186/s13059-014-0558-0) contains supplementary material, which is available to authorized users.
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