TranscriptClean: variant-aware correction of indels, mismatches and splice junctions in long-read transcripts.

TranscriptClean: variant-aware correction of indels, mismatches and splice junctions in long-read transcripts.
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DOI:
10.1093/bioinformatics/bty483
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发表时间:
2019-01-15
期刊:
Bioinformatics (Oxford, England)
影响因子:
--
通讯作者:
Mortazavi A
Mortazavi A
中科院分区:
其他
文献类型:
--
作者:
Wyman D;Mortazavi A

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长读段、单分子测序平台对于异构体发现和多外显子转录物的表征具有巨大潜力。然而,它们的高错误率是区分新转录物同种型与测序伪像的障碍。因此,我们开发了软件包TranscriptClean,以使用参考基因组纠正映射的转录本中的错配、微插入缺失和非规范剪接点,同时保留已知的变体。我们的方法纠正了几乎所有的错配和indels存在于一个可利用的人类PacBio Iso-seq数据集,并挽救了39%的非典型剪接点。本文中使用的所有Python和R脚本都可以在https://github.com/dewyman/TranscriptClean上找到。
Long-read, single-molecule sequencing platforms hold great potential for isoform discovery and characterization of multi-exon transcripts. However, their high error rates are an obstacle to distinguishing novel transcript isoforms from sequencing artifacts. Therefore, we developed the package TranscriptClean to correct mismatches, microindels and noncanonical splice junctions in mapped transcripts using the reference genome while preserving known variants. Our method corrects nearly all mismatches and indels present in a publically available human PacBio Iso-seq dataset, and rescues 39% of noncanonical splice junctions. All Python and R scripts used in this paper are available at https://github.com/dewyman/TranscriptClean.
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