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在《动物在线孟德尔遗传》(OMIA)中。

in Online Mendelian Inheritance in Animals (OMIA).

作者信息

Tammen Imke, Bailey Ernest, Mather Marius, Nicholas Frank W

机构信息

Sydney School of Veterinary Science, Faculty of Science, The University of Sydney, Sydney, NSW 2006, Australia.

Gluck Equine Research Center, University of Kentucky, Lexington, KY 40546, USA.

出版信息

Animals (Basel). 2024 Jul 15;14(14):2069. doi: 10.3390/ani14142069.

Abstract

Online Mendelian Inheritance in Animals (OMIA is a freely available information resource, which includes information for inherited traits/diseases (collectively called phenes). The database focuses on Mendelian traits and their likely causal variants (mutations). Some of these Mendelian traits are favored by humans, e.g., coat color, while others are diseases. Additions to OMIA are based on publications of peer-reviewed research. Maintaining up-to-date information in OMIA is a challenge, owing to the multiplicity of species, the increase in the number of relevant publications, and as reference genomes and methods of citation continue to evolve. This challenge has been successfully aided by contributions from scientists from around the world. In some cases, those scientists are faculty members who charge their students with curation as an educational activity. Recently, OMIA has introduced computerized lists of standardized names and synonyms (called ontologies) for breeds of and other animals and for phene categories. These ontologies facilitate increased connectivity between OMIA and other online resources. OMIA is and will continue to be a major reference resource for Mendelian phenes in the genus .

摘要

动物在线孟德尔遗传数据库(OMIA)是一个免费的信息资源库,其中包含有关遗传性状/疾病(统称为表型)的信息。该数据库专注于孟德尔性状及其可能的因果变异(突变)。其中一些孟德尔性状受人类青睐,例如毛色,而其他的则是疾病。OMIA的更新内容基于同行评审研究的出版物。由于物种繁多、相关出版物数量增加,以及参考基因组和引用方法不断演变,在OMIA中保持最新信息是一项挑战。来自世界各地科学家的贡献成功地帮助应对了这一挑战。在某些情况下,这些科学家是教师,他们将整理工作交给学生作为一种教育活动。最近,OMIA引入了针对品种及其他动物以及表型类别的标准化名称和同义词的计算机化列表(称为本体)。这些本体促进了OMIA与其他在线资源之间的连接性增强。OMIA过去是、并且将继续是该属孟德尔表型的主要参考资源。

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