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New de novo assembly of the Atlantic bottlenose dolphin (Tursiops truncatus) improves genome completeness and provides haplotype phasing

机译:大西洋宽吻海豚(Tursiops truncatus)的新的从头组装提高了基因组完整性并提供了单倍型定相

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摘要

High-quality genomes are essential to resolve challenges in breeding, comparative biology, medicine, and conservation planning. New library preparation techniques along with better assembly algorithms result in continued improvements in assemblies for non-model organisms, moving them toward reference-quality genomes. We report on the latest genome assembly of the Atlantic bottlenose dolphin, leveraging Illumina sequencing data coupled with a combination of several library preparation techniques. These include Linked-Reads (Chromium, 10x Genomics), mate pairs (MP), long insert paired ends, and standard paired end. Data were assembled with the commercial DeNovoMAGIC assembly software, resulting in two assemblies, a traditional “haploid” assembly (Tur_tru_Illumina_hap_v1) that is a mosaic of the two parental haplotypes and a phased assembly (Tur_tru_Illumina_phased_v1) where each scaffold has sequence from a single homologous chromosome. We show that Tur_tru_Illumina_hap_v1 is more complete and more accurate compared to the current best reference based on the amount and composition of sequence, the consistency of the MP alignments to the assembled scaffolds, and on the analysis of conserved single-copy mammalian orthologs. The phased de novo assembly Tur_tru_Illumina_phased_v1 is the first publicly available for this species and provides the community with novel and accurate ways to explore the heterozygous nature of the dolphin genome.
机译:高质量的基因组对于解决育种,比较生物学,医学和保护计划方面的挑战至关重要。新的文库制备技术以及更好的组装算法导致对非模型生物的组装的持续改进,使它们朝着具有参考质量的基因组发展。我们利用Illumina测序数据以及几种文库制备技术的组合,报告了大西洋宽吻海豚的最新基因组组装。这些包括链接读(铬,10倍基因组学),配对(MP),长插入配对末端和标准配对末端。用商业DeNovoMAGIC组装软件组装数据,得到两个组装,一个是传统的“单倍体”组装(Tur_tru_Illumina_hap_v1),它是两个亲本单倍型的镶嵌图,另一个是分阶段组装(Tur_tru_Illumina_phased_v1),其中每个支架具有来自单个同源染色体的序列。我们基于序列的数量和组成,与组装好的支架的MP比对的一致性以及对保守的单拷贝哺乳动物直系同源物的分析,表明Tur_tru_Illumina_hap_v1与当前的最佳参考文献相比更加完整和准确。从头开始的分阶段装配Tur_tru_Illumina_phased_v1是该物种的首个公开版本,它为社区提供了探索海豚基因组杂合性质的新颖准确的方法。

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