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本文引用的文献

1
Liftoff: accurate mapping of gene annotations.发射:基因注释的精确映射。
Bioinformatics. 2021 Jul 19;37(12):1639-1643. doi: 10.1093/bioinformatics/btaa1016.
2
Phased diploid genome assemblies and pan-genomes provide insights into the genetic history of apple domestication.分阶段的二倍体基因组组装和泛基因组为研究苹果驯化的遗传历史提供了线索。
Nat Genet. 2020 Dec;52(12):1423-1432. doi: 10.1038/s41588-020-00723-9. Epub 2020 Nov 2.
3
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies.Merqury:基因组组装的无参考质量、完整性和相位评估。
Genome Biol. 2020 Sep 14;21(1):245. doi: 10.1186/s13059-020-02134-9.
4
Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle.单体型解析基因组为安格斯牛和婆罗门牛的结构变异和基因组成提供了新的见解。
Nat Commun. 2020 Apr 29;11(1):2071. doi: 10.1038/s41467-020-15848-y.
5
Symposium review: Advances in sequencing technology herald a new frontier in cattle genomics and genome-enabled selection.研讨会综述:测序技术的进步预示着牛基因组学和基因组辅助选择的新时代的到来。
J Dairy Sci. 2020 Jun;103(6):5278-5290. doi: 10.3168/jds.2019-17693. Epub 2020 Apr 22.
6
Continuous chromosome-scale haplotypes assembled from a single interspecies F1 hybrid of yak and cattle.连续的染色体尺度单体型由牦牛和牛的一个种间 F1 杂种组装而成。
Gigascience. 2020 Apr 1;9(4). doi: 10.1093/gigascience/giaa029.
7
De novo assembly of the cattle reference genome with single-molecule sequencing.利用单分子测序技术从头组装牛参考基因组。
Gigascience. 2020 Mar 1;9(3). doi: 10.1093/gigascience/giaa021.
8
Identifying and removing haplotypic duplication in primary genome assemblies.鉴定和去除初级基因组组装中的单倍型重复。
Bioinformatics. 2020 May 1;36(9):2896-2898. doi: 10.1093/bioinformatics/btaa025.
9
HUPAN: a pan-genome analysis pipeline for human genomes.HUPAN:一个用于人类基因组的泛基因组分析流水线。
Genome Biol. 2019 Jul 31;20(1):149. doi: 10.1186/s13059-019-1751-y.
10
BUSCO: Assessing Genome Assembly and Annotation Completeness.BUSCO:评估基因组组装和注释的完整性
Methods Mol Biol. 2019;1962:227-245. doi: 10.1007/978-1-4939-9173-0_14.

西门塔尔牛(Bos taurus taurus)参考基因组组装

A Reference Genome Assembly of Simmental Cattle, Bos taurus taurus.

机构信息

USDA, ARS, U.S. Meat Animal Research Center, Clay Center, NE.

USDA, ARS, U.S. Dairy Forage Research Center, Madison, WI.

出版信息

J Hered. 2021 Mar 29;112(2):184-191. doi: 10.1093/jhered/esab002.

DOI:10.1093/jhered/esab002
PMID:33438035
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8006815/
Abstract

Genomics research has relied principally on the establishment and curation of a reference genome for the species. However, it is increasingly recognized that a single reference genome cannot fully describe the extent of genetic variation within many widely distributed species. Pangenome representations are based on high-quality genome assemblies of multiple individuals and intended to represent the broadest possible diversity within a species. A Bovine Pangenome Consortium (BPC) has recently been established to begin assembling genomes from more than 600 recognized breeds of cattle, together with other related species to provide information on ancestral alleles and haplotypes. Previously reported de novo genome assemblies for Angus, Brahman, Hereford, and Highland breeds of cattle are part of the initial BPC effort. The present report describes a complete single haplotype assembly at chromosome-scale for a fullblood Simmental cow from an F1 bison-cattle hybrid fetus by trio binning. Simmental cattle, also known as Fleckvieh due to their red and white spots, originated in central Europe in the 1830s as a triple-purpose breed selected for draught, meat, and dairy production. There are over 50 million Simmental cattle in the world, known today for their fast growth and beef yields. This assembly (ARS_Simm1.0) is similar in length to the other bovine assemblies at 2.86 Gb, with a scaffold N50 of 102 Mb (max scaffold 156.8 Mb) and meets or exceeds the continuity of the best Bos taurus reference assemblies to date.

摘要

基因组学研究主要依赖于为物种建立和维护参考基因组。然而,人们越来越认识到,单一的参考基因组不能充分描述许多广泛分布的物种内遗传变异的程度。泛基因组表示基于多个个体的高质量基因组组装,旨在代表物种内尽可能广泛的多样性。最近成立了一个牛泛基因组联盟(BPC),开始组装来自 600 多个公认的牛品种以及其他相关物种的基因组,以提供关于祖先等位基因和单倍型的信息。先前报道的 Angus、Brahman、Hereford 和 Highland 牛的从头基因组组装是初始 BPC 工作的一部分。本报告描述了通过三胞胎 bin 对来自野牛-牛杂交胎儿的全血西门塔尔牛进行的染色体规模的完整单倍型组装。西门塔尔牛也因其红白斑点而被称为 Fleckvieh,起源于 19 世纪 30 年代的中欧,是一种三用途品种,用于拖曳、肉类和奶制品生产。全世界有超过 5000 万头西门塔尔牛,以其快速生长和牛肉产量而闻名。该组装体(ARS_Simm1.0)与其他牛组装体的长度相似,为 28.6Gb,支架 N50 为 102Mb(最大支架为 156.8Mb),并且达到或超过了迄今为止最佳的 Bos taurus 参考组装体的连续性。