Integration of mouse phenome data resources
Integration of mouse phenome data resources
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DOI：
10.1007/s00335-007-9004-x
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发表时间：
2007-03-01
期刊：
影响因子：
2.5
通讯作者：
Zouberakis, Michalis
中科院分区：
文献类型：
--
作者：
Hancock, John M.;Adams, Niels C.;Zouberakis, Michalis
理解小鼠基因组中编码的功能将是理解人类疾病遗传基础的核心。为了实现这一点，它将是至关重要的是能够表征的变异和改变在个别基因的表型后果。关于小鼠品系表型的数据目前以多种不同的形式保存在世界各地的许多地点（小鼠品系的详细描述、关于新突变的一线表型数据、关于近交系正常特征的数据）。为了最有效地利用这些数据集，我们已经启动了一个过程，以制定标准的描述表型（使用本体）和文件格式的描述表型协议和表型数据集。这一过程正在进行中，需要得到更广泛的小鼠遗传学和表型社区的支持才能取得成功。我们邀请感兴趣的各方与我们联系，因为我们进一步发展这一进程。
Understanding the functions encoded in the mouse genome will be central to an understanding of the genetic basis of human disease. To achieve this it will be essential to be able to characterize the phenotypic consequences of variation and alterations in individual genes. Data on the phenotypes of mouse strains are currently held in a number of different forms (detailed descriptions of mouse lines, first-line phenotyping data on novel mutations, data on the normal features of inbred lines) at many sites worldwide. For the most efficient use of these data sets, we have initiated a process to develop standards for the description of phenotypes (using ontologies) and file formats for the description of phenotyping protocols and phenotype data sets. This process is ongoing and needs to be supported by the wider mouse genetics and phenotyping communities to succeed. We invite interested parties to contact us as we develop this process further.