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皇冠珍珠蚌V2:欧洲淡水珍珠蚌(林奈,1758年)的改进基因组组装

The Crown Pearl V2: an improved genome assembly of the European freshwater pearl mussel (Linnaeus, 1758).

作者信息

Gomes-Dos-Santos André, Lopes-Lima Manuel, Machado André M, Forest Thomas, Achaz Guillaume, Teixeira Amílcar, Prié Vincent, C Castro L Filipe, Froufe Elsa

机构信息

CIIMAR/CIMAR - Interdisciplinary Centre of Marine and Environmental Research, University of Porto, Matosinhos, Portugal.

Faculty of Sciences, University of Porto, , Porto, Portugal.

出版信息

GigaByte. 2023 May 15;2023:gigabyte81. doi: 10.46471/gigabyte.81. eCollection 2023.

Abstract

Contiguous assemblies are fundamental to deciphering the composition of extant genomes. In molluscs, this is considerably challenging owing to the large size of their genomes, heterozygosity, and widespread repetitive content. Consequently, long-read sequencing technologies are fundamental for high contiguity and quality. The first genome assembly of (Linnaeus, 1758) (Mollusca: Bivalvia: Unionida), a culturally relevant, widespread, and highly threatened species of freshwater mussels, was recently generated. However, the resulting genome is highly fragmented since the assembly relied on short-read approaches. Here, an improved reference genome assembly was generated using a combination of PacBio CLR long reads and Illumina paired-end short reads. This genome assembly is 2.4 Gb long, organized into 1,700 scaffolds with a contig N50 length of 3.4 Mbp. The gene prediction resulted in 48,314 protein-coding genes. Our new assembly is a substantial improvement and an essential resource for studying this species' unique biological and evolutionary features, helping promote its conservation.

摘要

连续组装对于解读现存基因组的组成至关重要。在软体动物中,由于其基因组规模庞大、存在杂合性以及广泛的重复序列,这一过程极具挑战性。因此,长读长测序技术对于实现高连续性和高质量组装至关重要。最近,人们首次完成了对(林奈,1758年)(软体动物门:双壳纲:蚌目)的基因组组装,这是一种具有文化意义、分布广泛且受到高度威胁的淡水贻贝物种。然而,由于该组装依赖短读长方法,所得基因组高度碎片化。在此,我们结合PacBio CLR长读长和Illumina双端短读长生成了一个改进的参考基因组组装。这个基因组组装长度为2.4 Gb,由1700个支架组成,重叠群N50长度为3.4 Mbp。基因预测结果显示有48314个蛋白质编码基因。我们的新组装是一个重大改进,也是研究该物种独特生物学和进化特征的重要资源,有助于促进其保护工作。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fa2/10189783/654ec92695da/gigabyte-2023-81-g001.jpg

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