MRC Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Harwell OX11 0RD, UK.
Methods. 2011 Apr;53(4):394-404. doi: 10.1016/j.ymeth.2010.12.017. Epub 2010 Dec 23.
Comprehensive phenotyping will be required to reveal the pleiotropic functions of a gene and to uncover the wider role of genetic loci within diverse biological systems. The challenge will be to devise phenotyping approaches to characterise the thousands of mutants that are being generated as part of international efforts to acquire a mutant for every gene in the mouse genome. In order to acquire robust datasets of broad based phenotypes from mouse mutants it is necessary to design and implement pipelines that incorporate standardised phenotyping platforms that are validated across diverse mouse genetics centres or mouse clinics. We describe here the rationale and methodology behind one phenotyping pipeline, EMPReSSslim, that was designed as part of the work of the EUMORPHIA and EUMODIC consortia, and which exemplifies some of the challenges facing large-scale phenotyping. EMPReSSslim captures a broad range of data on diverse biological systems, from biochemical to physiological amongst others. Data capture and dissemination is pivotal to the operation of large-scale phenotyping pipelines, including the definition of parameters integral to each phenotyping test and the associated ontological descriptions. EMPReSSslim data is displayed within the EuroPhenome database, where a variety of tools are available to allow the user to search for interesting biological or clinical phenotypes.
综合表型分析对于揭示基因的多效性以及发现遗传基因座在不同生物系统中的更广泛作用至关重要。这一挑战在于，需要设计表型分析方法来描述作为国际努力的一部分所产生的数千个突变体，这些努力旨在获得小鼠基因组中每个基因的突变体。为了从小鼠突变体中获得广泛的基础表型的稳健数据集，有必要设计和实施包含经过不同小鼠遗传学中心或小鼠临床验证的标准化表型平台的流水线。我们在这里描述了一个表型分析流水线 EMPReSSslim 的基本原理和方法学，该流水线是 EUMORPHIA 和 EUMODIC 联盟工作的一部分，它体现了大规模表型分析所面临的一些挑战。EMPrESSslim 从生物化学到生理学等多个方面，捕获了有关不同生物系统的广泛数据。数据捕获和传播对于大规模表型分析流水线的运作至关重要，包括定义每个表型测试的参数以及相关的本体描述。EMPrESSslim 数据显示在 EuroPhenome 数据库中，其中提供了各种工具，允许用户搜索有趣的生物学或临床表型。
