基于无二义序列连接的基因注释新方法

Computational Systems Bioinformatics. CSB2003. Proceedings of the 2003 IEEE Bioinformatics Conference. CSB2003 Pub Date : 2003-08-11 DOI:10.1109/CSB.2003.1227336

A. Tchourbanov, Daniel J. Quest, H. Ali, M. Pauley, R. Norgren

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引用次数: 6

摘要

本文解决的问题是准确和自动的基因注释，通过对人类基因组DNA与mRNA转录本的比对，对生物学验证的核苷酸序列的外显子和内含子边界进行精确的鉴定/注释。我们提供了一种新的cDNA/DNA同源基因注释算法的详细描述，该算法结合了BLASTN搜索和剪接比对的结果。与目前使用的其他程序相比，通过基因组DNA序列的明确连接，显著提高了注释质量。我们还讨论了非基因剪接位点和短外显子的基因注释。该方法已经在精灵学习子集和全尺寸的人类RefSeq上进行了测试，并证明了高达97%的性能。

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A new approach for gene annotation using unambiguous sequence joining

The problem addressed by this paper is accurate and automatic gene annotation following precise identification/annotation of exon and intron boundaries of biologically verified nucleotide sequences using the alignment of human genomic DNA to curated mRNA transcripts. We provide a detailed description of a new cDNA/DNA homology gene annotation algorithm that combines the results of BLASTN searches and spliced alignments. Compared to other programs currently in use, annotation quality is significantly increased through the unambiguous junction of genomic DNA sequences. We also address gene annotation with both noncanonic splice sites and short exons. The approach has been tested on the genie learning subset as well as full-scale human RefSeq, and has demonstrated performance as high as 97%.

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Computational Systems Bioinformatics. CSB2003. Proceedings of the 2003 IEEE Bioinformatics Conference. CSB2003

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