A space-efficient and accurate method for mapping and aligning cDNA sequences onto genomic sequence.

A space-efficient and accurate method for mapping and aligning cDNA sequences onto genomic sequence.
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将cDNA序列映射到基因组序列上的空间有效和准确的方法。

DOI:
10.1093/nar/gkn105
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发表时间:
2008-05
影响因子:
14.9
通讯作者:
Gotoh, Osamu
Gotoh, Osamu
中科院分区:
生物学2区
文献类型:
--
作者:
Gotoh, Osamu

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将转录本(cDNA、表达序列标签或氨基酸序列)映射和比对到基因组序列上是基因组注释的基本步骤,包括基因发现以及转录活性、可变剪接和核苷酸多态性分析。随着基因组和转录本的DNA序列数据以前所未有的速度积累,人们期望映射/比对计算工具在准确性、速度和空间需求方面不断改进。我们设计了一种多阶段启发式算法,并在开发独立计算机程序Spaln(节省空间的剪接比对)中实现了该算法。Spaln相当快速且节省空间;它使用常规计算机将>120000条Unigene序列映射和比对到未屏蔽的整个人类基因组上时,所需内存<1Gb,并能在<6小时内完成任务。在人为引入不同水平的噪声情况下,就映射的外显子 - 内含子结构的准确性而言,Spaln明显优于目前其他领先的比对程序。这种性能的实现无需大量学习过程来针对特定生物体调整参数值。根据其易用性和准确性,Spaln可用于广泛的基因组分析研究。
The mapping and alignment of transcripts (cDNA, expressed sequence tag or amino acid sequences) onto a genomic sequence is a fundamental step for genome annotation, including gene finding and analyses of transcriptional activity, alternative splicing and nucleotide polymorphisms. As DNA sequence data of genomes and transcripts are accumulating at an unprecedented rate, steady improvement in accuracy, speed and space requirement in the computational tools for mapping/alignment is desired. We devised a multi-phase heuristic algorithm and implemented it in the development of the stand-alone computer program Spaln (space-efficient spliced alignment). Spaln is reasonably fast and space efficient; it requires <1 Gb of memory to map and align >120 000 Unigene sequences onto the unmasked whole human genome with a conventional computer, finishing the job in <6 h. With artificially introduced noise of various levels, Spaln significantly outperforms other leading alignment programs currently available with respect to the accuracy of mapped exon–intron structures. This performance is achieved without extensive learning procedures to adjust parameter values to a particular organism. According to the handiness and accuracy, Spaln may be used for studies on a wide area of genome analyses.
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发表时间: 2005-02-15
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影响因子: 3
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