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高通量小鼠表型分析用于鉴定哺乳动物基因功能。

High-throughput mouse phenomics for characterizing mammalian gene function.

机构信息

MRC Harwell Institute, Harwell, UK.

Nuffield Department of Medicine and Department of Statistics, University of Oxford, Oxford, UK.

出版信息

Nat Rev Genet. 2018 Jun;19(6):357-370. doi: 10.1038/s41576-018-0005-2.

Abstract

We are entering a new era of mouse phenomics, driven by large-scale and economical generation of mouse mutants coupled with increasingly sophisticated and comprehensive phenotyping. These studies are generating large, multidimensional gene-phenotype data sets, which are shedding new light on the mammalian genome landscape and revealing many hitherto unknown features of mammalian gene function. Moreover, these phenome resources provide a wealth of disease models and can be integrated with human genomics data as a powerful approach for the interpretation of human genetic variation and its relationship to disease. In the future, the development of novel phenotyping platforms allied to improved computational approaches, including machine learning, for the analysis of phenotype data will continue to enhance our ability to develop a comprehensive and powerful model of mammalian gene-phenotype space.

摘要

我们正在进入一个新的小鼠表型组学时代,这一时代的到来得益于大规模且经济的小鼠突变体的产生,以及日益复杂和全面的表型分析。这些研究产生了大量多维的基因-表型数据集,这些数据集为哺乳动物基因组景观提供了新的视角,并揭示了哺乳动物基因功能的许多以前未知的特征。此外,这些表型资源提供了丰富的疾病模型,并且可以与人类基因组学数据相结合,作为解释人类遗传变异及其与疾病关系的一种强大方法。未来,新型表型分析平台的发展以及包括机器学习在内的计算方法的改进,将继续提高我们构建全面而强大的哺乳动物基因-表型空间模型的能力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae34/6582361/6641327a916b/nihms-1030719-f0001.jpg

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