Accurate isoform discovery with IsoQuant using long reads

被引:49
|
作者
Prjibelski, Andrey D. [1 ,2 ]
Mikheenko, Alla [1 ]
Joglekar, Anoushka [3 ,4 ,5 ]
Smetanin, Alexander [6 ]
Jarroux, Julien [4 ,5 ]
Lapidus, Alla L. [1 ]
Tilgner, Hagen U. [4 ,5 ]
机构
[1] St Petersburg State Univ, Inst Translat Biomed, Ctr Algorithm Biotechnol, St Petersburg, Russia
[2] Univ Helsinki, Dept Comp Sci, Helsinki, Finland
[3] Weill Cornell Med, Triinst Computat Biol & Med, New York, NY USA
[4] Weill Cornell Med, Brain & Mind Res Inst, New York, NY 10021 USA
[5] Weill Cornell Med, Ctr Neurogenet, New York, NY 10021 USA
[6] Bioinformat Inst, St Petersburg, Russia
关键词
Computational tools - False positive rates - Free mode - Genome annotation - Improve performance - Isoforms - Reference-free;
D O I
10.1038/s41587-022-01565-y
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Annotating newly sequenced genomes and determining alternative isoforms from long-read RNA data are complex and incompletely solved problems. Here we present IsoQuant-a computational tool using intron graphs that accurately reconstructs transcripts both with and without reference genome annotation. For novel transcript discovery, IsoQuant reduces the false-positive rate fivefold and 2.5-fold for Oxford Nanopore reference-based or reference-free mode, respectively. IsoQuant also improves performance for Pacific Biosciences data.
引用
收藏
页码:915 / +
页数:10
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