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MapNext:一款用于短序列读取的拼接和未拼接比对及 SNP 检测的软件工具。

MapNext: a software tool for spliced and unspliced alignments and SNP detection of short sequence reads.

机构信息

State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, 510275, PR China.

出版信息

BMC Genomics. 2009 Dec 3;10 Suppl 3(Suppl 3):S13. doi: 10.1186/1471-2164-10-S3-S13.

Abstract

BACKGROUND

Next-generation sequencing technologies provide exciting avenues for studies of transcriptomics and population genomics. There is an increasing need to conduct spliced and unspliced alignments of short transcript reads onto a reference genome and estimate minor allele frequency from sequences of population samples.

RESULTS

We have designed and implemented MapNext, a software tool for both spliced and unspliced alignments of short sequence reads onto reference sequences, and automated SNP detection using neighbourhood quality standards. MapNext provides four main analyses: (i) unspliced alignment and clustering of reads, (ii) spliced alignment of transcript reads over intron boundaries, (iii) SNP detection and estimation of minor allele frequency from population sequences, and (iv) storage of result data in a database to make it available for more flexible queries and for further analyses. The software tool has been tested using both simulated and real data.

CONCLUSION

MapNext is a comprehensive and powerful tool for both spliced and unspliced alignments of short reads and automated SNP detection from population sequences. The simplicity, flexibility and efficiency of MapNext makes it a valuable tool for transcriptomic and population genomic research.

摘要

背景

下一代测序技术为转录组学和群体基因组学的研究提供了令人兴奋的途径。越来越需要将短转录本读取的拼接和未拼接比对到参考基因组上,并从群体样本的序列中估计次要等位基因频率。

结果

我们设计并实现了 MapNext,这是一种用于将短序列读取的拼接和未拼接比对到参考序列上的软件工具,并使用邻域质量标准自动检测 SNP。MapNext 提供了四项主要分析:(i)未拼接的读取对齐和聚类,(ii)跨越内含子边界的转录本读取的拼接对齐,(iii)从群体序列中检测 SNP 和估计次要等位基因频率,以及(iv)将结果数据存储在数据库中,以便更灵活地查询和进一步分析。该软件工具已使用模拟和真实数据进行了测试。

结论

MapNext 是一种用于拼接和未拼接短读比对以及从群体序列中自动检测 SNP 的全面而强大的工具。MapNext 的简单性、灵活性和效率使其成为转录组学和群体基因组学研究的有价值的工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/490c/2788365/426d28dcd1da/1471-2164-10-S3-S13-1.jpg

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