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通过从丢失的 contigs 中召回序列来提高染色体水平组装的完整性。

Improving the Completeness of Chromosome-Level Assembly by Recalling Sequences from Lost Contigs.

机构信息

Zhengzhou Research Base, State Key Laboratory of Cotton Biology, School of Agricultural Sciences, Zhengzhou University, Zhengzhou 450001, China.

Shenzhen Branch, Guangdong Laboratory of Lingnan Modern Agriculture, Genome Analysis Laboratory of the Ministry of Agriculture and Rural Affairs, Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences (ICR, CAAS), Shenzhen 518120, China.

出版信息

Genes (Basel). 2023 Oct 10;14(10):1926. doi: 10.3390/genes14101926.

Abstract

For a long time, the construction of complete reference genomes for complex eukaryotic genomes has been hindered by the limitations of sequencing technologies. Recently, the Pacific Biosciences (PacBio) HiFi data and Oxford Nanopore Technologies (ONT) Ultra-Long data, leveraging their respective advantages in accuracy and length, have provided an opportunity for generating complete chromosome sequences. Nevertheless, for the majority of genomes, the chromosome-level assemblies generated using existing methods still miss a high proportion of sequences due to losing small contigs in the step of assembly and scaffolding. To address this shortcoming, in this paper, we propose a novel method that is able to identify and fill the gaps in the chromosome-level assembly by recalling the sequences in the lost small contigs. Experimental results on both real and simulated datasets demonstrate that this method is able to improve the completeness of the chromosome-level assembly.

摘要

长期以来,复杂真核生物基因组完整参考基因组的构建一直受到测序技术限制的阻碍。最近,Pacific Biosciences (PacBio) HiFi 数据和 Oxford Nanopore Technologies (ONT) Ultra-Long 数据利用各自在准确性和长度方面的优势,为生成完整的染色体序列提供了机会。然而,对于大多数基因组而言,由于在组装和支架构建步骤中丢失了小的 contigs,使用现有方法生成的染色体水平组装仍然会丢失很大一部分序列。为了解决这个问题,在本文中,我们提出了一种新的方法,通过召回丢失的小 contigs 中的序列来识别和填补染色体水平组装中的缺口。在真实和模拟数据集上的实验结果表明,该方法能够提高染色体水平组装的完整性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0cc2/10606404/adf501d99bc1/genes-14-01926-g001.jpg

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