BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data

被引：42

作者：

Chen, Ken ^{[1
]}

Wallis, John W. ^{[2
,3
]}

Kandoth, Cyriac ^{[3
]}

Kalicki-Veizer, Joelle M. ^{[3
]}

Mungall, Karen L. ^{[4
]}

Mungall, Andrew J. ^{[4
]}

Jones, Steven J. ^{[4
]}

Marra, Marco A. ^{[4
]}

Ley, Timothy J. ^{[3
,5
]}

Mardis, Elaine R. ^{[2
,3
]}

Wilson, Richard K. ^{[2
,3
]}

Weinstein, John N. ^{[1
]}

Ding, Li ^{[2
,3
]}

机构：

[1] UT MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX USA

[2] Washington Univ, Dept Genet, St Louis, MO 63110 USA

[3] Washington Univ, Genome Inst, St Louis, MO USA

[4] British Columbia Canc Agcy, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC V5Z 4E6, Canada

[5] Washington Univ, Div Oncol, Dept Internal Med, St Louis, MO USA

来源：

BIOINFORMATICS | 2012年 / 28卷 / 14期

关键词：

QUANTIFICATION; ALGORITHM; ALIGNMENT;

D O I：

10.1093/bioinformatics/bts272

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1923 / 1924

页数：2

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