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经过改良的大鼠参考基因组提高了实验室大鼠遗传多样性的发现。

A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats.

机构信息

Department of Pharmacology, Addiction Science, and Toxicology, University of Tennessee Health Science Center, Memphis, TN, USA.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.

出版信息

Cell Genom. 2024 Apr 10;4(4):100527. doi: 10.1016/j.xgen.2024.100527. Epub 2024 Mar 26.

Abstract

The seventh iteration of the reference genome assembly for Rattus norvegicus-mRatBN7.2-corrects numerous misplaced segments and reduces base-level errors by approximately 9-fold and increases contiguity by 290-fold compared with its predecessor. Gene annotations are now more complete, improving the mapping precision of genomic, transcriptomic, and proteomics datasets. We jointly analyzed 163 short-read whole-genome sequencing datasets representing 120 laboratory rat strains and substrains using mRatBN7.2. We defined ∼20.0 million sequence variations, of which 18,700 are predicted to potentially impact the function of 6,677 genes. We also generated a new rat genetic map from 1,893 heterogeneous stock rats and annotated transcription start sites and alternative polyadenylation sites. The mRatBN7.2 assembly, along with the extensive analysis of genomic variations among rat strains, enhances our understanding of the rat genome, providing researchers with an expanded resource for studies involving rats.

摘要

第七版 Rattus norvegicus-mRatBN7.2 参考基因组组装纠正了许多错位的片段,与前一版本相比,碱基错误率降低了约 9 倍,连续性提高了 290 倍。基因注释现在更加完整,提高了基因组、转录组和蛋白质组数据集的映射精度。我们使用 mRatBN7.2 联合分析了 163 个短读全基因组测序数据集,代表 120 个实验室大鼠品系和亚系。我们定义了约 2000 万个序列变异,其中 18700 个预测可能影响 6677 个基因的功能。我们还从 1893 只异质 stock 大鼠中生成了一个新的大鼠遗传图谱,并注释了转录起始位点和可变多聚腺苷酸化位点。mRatBN7.2 组装以及大鼠品系之间基因组变异的广泛分析,增强了我们对大鼠基因组的理解,为涉及大鼠的研究提供了扩展的资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18c8/11019364/cd39cc65d019/fx1.jpg

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