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三十年大鼠基因组学研究:接近终点。

Three decades of rat genomics: approaching the finish(ed) line.

机构信息

Gluck Equine Research Center, University of Kentucky, Lexington, Kentucky, United States.

Department of Biochemistry and Molecular Biology, University of Louisville School of Medicine, Louisville, Kentucky, United States.

出版信息

Physiol Genomics. 2024 Dec 1;56(12):807-818. doi: 10.1152/physiolgenomics.00110.2024. Epub 2024 Sep 30.

Abstract

The rat, , 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.

摘要

大鼠为研究一系列具有重要生物医学意义的特征提供了一个重要的模型。在这里,我们调查了该物种的起源、它在实验室研究中的引入,以及利用这种模式生物的遗传和基因组方法的出现。基因组研究取得了重要进展,并为一些重要的生物学特征提供了新的见解。然而,一些研究受到缺乏该物种完整、准确参考基因组的阻碍。应用于大鼠的新测序和基因组组装方法产生了一个新的参考基因组组装,GRCr8,这是一个具有高碱基水平准确性的近乎端粒到端粒的组装,其中包含了以前组装中未捕获的几个元素。随着基因组组装方法的不断进步和制造成本不再是一个重要的障碍,多个近交系大鼠的基因组组装正在出现。这些组装将允许构建大鼠泛基因组组装,捕获在研究中因其用途而被选择的品系中的所有遗传变异,并克服参考偏差,这是一种与依赖单一参考组装相关的限制。通过这种方式,该模式生物对基因组研究的全部用途将开始显现。

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