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解析异源四倍体组装中的同源序列:在硬粒小麦中的应用。

Disentangling homeologous contigs in allo-tetraploid assembly: application to durum wheat.

出版信息

BMC Bioinformatics. 2013;14 Suppl 15(Suppl 15):S15. doi: 10.1186/1471-2105-14-S15-S15. Epub 2013 Oct 15.

Abstract

BACKGROUND

Using Next Generation Sequencing, SNP discovery is relatively easy on diploid species and still hampered in polyploid species by the confusion due to homeology. We develop HomeoSplitter; a fast and effective solution to split original contigs obtained by RNAseq into two homeologous sequences. It uses the differential expression of the two homeologous genes in the RNA. We verify that the new sequences are closer to the diploid progenitors of the allopolyploid species than the original contig. By remapping original reads on these new sequences, we also verify that the number of valuable detected SNPs has significantly increased.

RESULTS

HomeoSplitter is a fast and effective solution to disentangle homeologous sequences based on a maximum likelihood optimization. On a benchmark set of 2,505 clusters containing homologous sequences of urartu, speltoides and durum, HomeoSplitter was efficient to build sequences closer to the diploid references and increased the number of valuable SNPs from 188 out of 1,360 SNPs detected when mapping the reads on the de novo durum assembly to 762 out of 1,620 SNPs when mapping on HomeoSplitter contigs.

CONCLUSIONS

The HomeoSplitter program is freely available at http://bioweb.supagro.inra.fr/homeoSplitter/. This work provides a practical solution to the complex problem of disentangling homeologous transcripts in allo-tetraploids, which further allows an improved SNP detection.

摘要

背景

使用下一代测序技术,在二倍体物种中 SNP 的发现相对容易,但在多倍体物种中,由于同源性的混淆,仍然存在困难。我们开发了 HomeoSplitter;这是一种快速有效的解决方案,可以将通过 RNAseq 获得的原始 contigs 拆分为两个同源序列。它利用了两个同源基因在 RNA 中的差异表达。我们验证了新序列比原始 contig 更接近异源多倍体物种的二倍体祖先。通过在这些新序列上重新映射原始读数,我们还验证了有价值的检测到的 SNPs 的数量显著增加。

结果

HomeoSplitter 是一种快速有效的基于最大似然优化的方法,用于解开同源序列。在一组包含 urartu、speltoides 和 durum 的同源序列的 2,505 个聚类基准测试集中,HomeoSplitter 能够有效地构建更接近二倍体参考的序列,并将从 de novo durum 组装上读取映射时检测到的 1,360 个 SNPs 中的 188 个增加到映射到 HomeoSplitter contigs 时的 1,620 个 SNPs 中的 762 个。

结论

HomeoSplitter 程序可在 http://bioweb.supagro.inra.fr/homeoSplitter/ 免费获得。这项工作为解决异源四倍体中同源转录本的复杂问题提供了一种实用的解决方案,进一步提高了 SNP 的检测效率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae11/3851826/a27d6e17d7e1/1471-2105-14-S15-S15-1.jpg

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