对一只惠比特犬进行高速全基因组测序:对速度极快的狗的基因组进行染色体级快速组装和注释。

GigaByte (Hong Kong, China) Pub Date : 2024-09-13 eCollection Date: 2024-01-01 DOI:10.46471/gigabyte.134
Marcel Nebenführ, David Prochotta, Alexander Ben Hamadou, Axel Janke, Charlotte Gerheim, Christian Betz, Carola Greve, Hanno Jörn Bolz
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引用次数: 0

摘要

基因组测序和从头组装所需的时间取决于实验室工作、测序能力和生物信息学工作流程之间的相互作用,通常受到外部测序服务的限制。我们联合了生物多样性学术机构和一家具有广泛测序能力的医疗诊断公司,旨在用最短的时间生成高质量的哺乳动物从头基因组。我们利用 PacBio 长线程高保真测序技术和参考文献指导的支架技术,首次完成了惠比特犬染色体组水平的基因组组装。最终组装的等位基因 N50 为 55 Mbp,支架 N50 为 65.7 Mbp。装配总长度为 2.47 Gbp,其中 2.43 Gpb 分成 39 个染色体长度的支架。利用哺乳动物基因组和转录组数据进行了注释,得到了 28,383 个转录本、90.9% 完整的 BUSCO 基因,并确定了 36.5% 的重复内容。惠比特犬染色体级基因组的测序、组装和支架制作耗时不到一周,为现有的家犬品种序列又增加了一个高质量的参考基因组。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High-speed whole-genome sequencing of a Whippet: Rapid chromosome-level assembly and annotation of an extremely fast dog's genome.

The time required for genome sequencing and de novo assembly depends on the interaction between laboratory work, sequencing capacity, and the bioinformatics workflow, often constrained by external sequencing services. Bringing together academic biodiversity institutes and a medical diagnostics company with extensive sequencing capabilities, we aimed at generating a high-quality mammalian de novo genome in minimal time. We present the first chromosome-level genome assembly of the Whippet, using PacBio long-read high-fidelity sequencing and reference-guided scaffolding. The final assembly has a contig N50 of 55 Mbp and a scaffold N50 of 65.7 Mbp. The total assembly length is 2.47 Gbp, of which 2.43 Gpb were scaffolded into 39 chromosome-length scaffolds. Annotation using mammalian genomes and transcriptome data yielded 28,383 transcripts, 90.9% complete BUSCO genes, and identified 36.5% repeat content. Sequencing, assembling, and scaffolding the chromosome-level genome of the Whippet took less than a week, adding another high-quality reference genome to the available sequences of domestic dog breeds.

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CiteScore
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