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Genetic anchoring of whole-genome shotgun assemblies

机译:全基因组shot弹枪组件的遗传锚定

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摘要

The recent advances in sequencing throughput and genome assembly algorithms have established whole-genome shotgun (WGS) assemblies as the cornerstone of the genomic infrastructure for many species. WGS assemblies can be constructed with comparative ease and give a comprehensive representation of the gene space even of large and complex genomes. One major obstacle in utilizing WGS assemblies for important research applications such as gene isolation or comparative genomics has been the lack of chromosomal positioning and contextualization of short sequence contigs. Assigning chromosomal locations to sequence contigs required the construction and integration of genome-wide physical maps and dense genetic linkage maps as well as synteny to model species. Recently, methods to rapidly construct ultra-dense linkage maps encompassing millions of genetic markers from WGS sequencing data of segregating populations have made possible the direct assignment of genetic positions to short sequence contigs. Here, we review recent developments in the integration of WGS assemblies and sequence-based linkage maps, discuss challenges for further improvement of the methodology and outline possible applications building on genetically anchored WGS assemblies.
机译:测序通量和基因组装配算法的最新进展已将全基因组shot弹枪(WGS)装配确立为许多物种的基因组基础设施的基石。 WGS组装件可以比较容易地构建,甚至可以提供大型复杂基因组的基因空间的全面表示。在将WGS组件用于重要研究应用(例如基因分离或比较基因组学)中的一个主要障碍是缺乏染色体定位和短序列重叠群的上下文关联。为染色体重叠群分配染色体位置需要构建和整合全基因组范围的物理图谱和密集的遗传连锁图谱,以及与模型物种的共鸣。最近,从隔离群体的WGS测序数据中快速构建包含数百万个遗传标记的超密集连锁图的方法,使得将遗传位置直接分配给短序列重叠群成为可能。在这里,我们回顾了WGS组件和基于序列的链接图集成的最新进展,讨论了进一步改进方法的挑战,并概述了基于基因锚定的WGS组件的可能应用。

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