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新的大西洋宽吻海豚(Tursiops truncatus)从头组装提高了基因组的完整性,并提供了单倍型相位信息。

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

机构信息

Illumina, Inc., 5200 Illumina Way, San Diego, CA 92122, USA.

GinkgoFish LLC, 204 West Spear St, Carson City, NV 89703.

出版信息

Gigascience. 2019 Mar 1;8(3). doi: 10.1093/gigascience/giy168.

Abstract

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.

摘要

高质量的基因组对于解决育种、比较生物学、医学和保护规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,使得非模式生物的组装不断得到改进,使其向参考基因组质量靠拢。我们报告了利用 Illumina 测序数据结合几种文库制备技术,对大西洋宽吻海豚进行的最新基因组组装。这些技术包括连接读取(Chromium、10x Genomics)、配对末端(mate pairs、MP)、长插入配对末端和标准配对末端。使用商业的 DeNovoMAGIC 组装软件对数据进行组装,得到了两个组装结果,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嵌合体,另一个是相位组装(Tur_tru_Illumina_phased_v1),其中每个支架都具有来自单个同源染色体的序列。我们表明,与基于序列数量和组成、MP 比对与组装支架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的当前最佳参考相比,Tur_tru_Illumina_hap_v1 更完整和更准确。相位从头组装 Tur_tru_Illumina_phased_v1 是该物种的第一个公开版本,为社区提供了探索海豚基因组杂合性质的新颖而准确的方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f149/6443575/00a380f2dbbb/giy168fig1.jpg

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