大鼠基因组学三十年:接近终点。

IF 2.5 4区 生物学 Q3 CELL BIOLOGY Physiological genomics Pub Date : 2024-12-01 Epub Date: 2024-09-30 DOI:10.1152/physiolgenomics.00110.2024
Theodore S Kalbfleisch, Melissa L Smith, Julia L Ciosek, Kai Li, Peter A Doris
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引用次数: 0

摘要

大鼠(Rattus norvegicus)是研究一系列生物医学重要特征的重要模型。在此,我们将对这一物种的起源、它被引入实验室研究以及利用这一模式生物的遗传和基因组学方法的出现进行调查。基因组研究已经取得了重要进展,并为一些重要的生物特征提供了新的见解。然而,由于该物种缺乏完整准确的参考基因组,一些研究受到了阻碍。应用于大鼠的新测序和基因组组装方法产生了新的参考基因组组装,即 GRCr8,这是一个接近端粒到端粒的组装,具有很高的碱基水平准确性,其中包含了一些以前的组装中没有捕获到的元素。随着基因组组装方法的不断进步和生产成本的降低,多个近交系大鼠品系的基因组组装正在出现。通过这些基因组组装,可以构建大鼠泛基因组组装,从而捕捉到因研究用途而被选中的品系中的所有遗传变异,并克服参考偏倚这一与依赖单一参考组装相关的局限性。通过这种方法,这种模式生物在基因组研究中的全部用途将开始显现出来。
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Three decades of rat genomics: approaching the finish(ed) line.

The rat, Rattus norvegicus, has provided an important model for investigation of a range of characteristics of biomedical importance. Here we survey the origins of this species, its introduction into laboratory research, and the emergence of genetic and genomic methods that utilize this model organism. Genomic studies have yielded important progress and provided new insight into several biologically important traits. However, some studies have been impeded by the lack of a complete and accurate reference genome for this species. New sequencing and genome assembly methods applied to the rat have resulted in a new reference genome assembly, GRCr8, which is a near telomere-to-telomere assembly of high base-level accuracy that incorporates several elements not captured in prior assemblies. As genome assembly methods continue to advance and production costs become a less significant obstacle, genome assemblies for multiple inbred rat strains are emerging. These assemblies will allow a rat pangenome assembly to be constructed that captures all the genetic variations in strains selected for their utility in research and will overcome reference bias, a limitation associated with reliance on a single reference assembly. By this means, the full utility of this model organism to genomic studies will begin to be revealed.

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来源期刊
Physiological genomics
Physiological genomics 生物-生理学
CiteScore
6.10
自引率
0.00%
发文量
46
审稿时长
4-8 weeks
期刊介绍: The Physiological Genomics publishes original papers, reviews and rapid reports in a wide area of research focused on uncovering the links between genes and physiology at all levels of biological organization. Articles on topics ranging from single genes to the whole genome and their links to the physiology of humans, any model organism, organ, tissue or cell are welcome. Areas of interest include complex polygenic traits preferably of importance to human health and gene-function relationships of disease processes. Specifically, the Journal has dedicated Sections focused on genome-wide association studies (GWAS) to function, cardiovascular, renal, metabolic and neurological systems, exercise physiology, pharmacogenomics, clinical, translational and genomics for precision medicine, comparative and statistical genomics and databases. For further details on research themes covered within these Sections, please refer to the descriptions given under each Section.
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