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ExceS-A:一种基于外显子的分割比对软件。

ExceS-A: an exon-centric split aligner.

机构信息

Bioinformatics Group, Institute of Computer Science, Interdisciplinary Center of Bioinformatics, Leipzig University, Härtelstraße 16-18, D-04107 Leipzig, Germany.

Max-Planck-Institute for Mathematics in the Sciences, Inselstraße 22, D-04103 Leipzig, Germany.

出版信息

J Integr Bioinform. 2022 Mar 7;19(1):20210040. doi: 10.1515/jib-2021-0040.

DOI:10.1515/jib-2021-0040
PMID:35254744
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9069663/
Abstract

Spliced alignments are a key step in the construction of high-quality homology-based annotations of protein sequences. The exon/intron structure, which is computed as part of spliced alignment procedures, often conveys important information for the distinguishing paralogous members of gene families. Here we present an exon-centric pipeline for spliced alignment that is intended in particular for applications that involve exon-by-exon comparisons of coding sequences. We show that the simple, blat-based approach has advantages over established tools in particular for genes with very large introns and applications to fragmented genome assemblies.

摘要

拼接比对是构建高质量基于同源性的蛋白质序列注释的关键步骤。外显子/内含子结构是拼接比对过程的一部分,它经常为区分基因家族的旁系同源成员提供重要信息。本文提出了一种基于外显子的拼接比对管道,特别适用于涉及编码序列逐外显子比较的应用。我们表明,对于具有非常大内含子的基因和应用于碎片化基因组组装的情况,基于 blat 的简单方法比已有工具具有优势。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/62492371ef4b/j_jib-2021-0040_fig_005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/7ca6837f8d09/j_jib-2021-0040_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/815c58c92c43/j_jib-2021-0040_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/e57a254259b7/j_jib-2021-0040_fig_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/253c6c3cc21a/j_jib-2021-0040_fig_004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/62492371ef4b/j_jib-2021-0040_fig_005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/7ca6837f8d09/j_jib-2021-0040_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/815c58c92c43/j_jib-2021-0040_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/e57a254259b7/j_jib-2021-0040_fig_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/253c6c3cc21a/j_jib-2021-0040_fig_004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67b4/9069663/62492371ef4b/j_jib-2021-0040_fig_005.jpg

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本文引用的文献

1
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BMC Bioinformatics. 2019 Mar 29;20(Suppl 3):133. doi: 10.1186/s12859-019-2647-2.
2
The Putative Smallest Introns in the Arabidopsis Genome.拟南芥基因组中的最小内含子。
Genome Biol Evol. 2018 Sep 1;10(9):2551-2557. doi: 10.1093/gbe/evy197.
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Identification of human short introns.人类短内含子的鉴定
PLoS One. 2017 May 17;12(5):e0175393. doi: 10.1371/journal.pone.0175393. eCollection 2017.
4
Assisted transcriptome reconstruction and splicing orthology.辅助转录组重建与剪接直系同源关系。
BMC Genomics. 2016 Nov 11;17(Suppl 10):786. doi: 10.1186/s12864-016-3103-6.
5
The paralog-to-contig assignment problem: high quality gene models from fragmented assemblies.旁系同源基因到重叠群的分配问题:来自片段化组装的高质量基因模型
Algorithms Mol Biol. 2016 Feb 24;11:1. doi: 10.1186/s13015-016-0063-y. eCollection 2016.
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Comparison of splice sites reveals that long noncoding RNAs are evolutionarily well conserved.剪接位点的比较表明,长链非编码RNA在进化上具有良好的保守性。
RNA. 2015 May;21(5):801-12. doi: 10.1261/rna.046342.114. Epub 2015 Mar 23.
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A multi-split mapping algorithm for circular RNA, splicing, trans-splicing and fusion detection.一种用于环状RNA、剪接、反式剪接和融合检测的多分割映射算法。
Genome Biol. 2014 Feb 10;15(2):R34. doi: 10.1186/gb-2014-15-2-r34.
8
Systematic evaluation of spliced alignment programs for RNA-seq data.系统评估 RNA-seq 数据拼接比对程序。
Nat Methods. 2013 Dec;10(12):1185-91. doi: 10.1038/nmeth.2722. Epub 2013 Nov 3.
9
The role of AUTS2 in neurodevelopment and human evolution.AUTS2 在神经发育和人类进化中的作用。
Trends Genet. 2013 Oct;29(10):600-8. doi: 10.1016/j.tig.2013.08.001. Epub 2013 Sep 2.
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