Equus in Online Mendelian Inheritance in Animals (OMIA)

被引:0
作者
Tammen, Imke [1 ]
Bailey, Ernest [2 ]
Mather, Marius [3 ]
Nicholas, Frank W. [1 ]
机构
[1] Univ Sydney, Fac Sci, Sydney Sch Vet Sci, Sydney, NSW 2006, Australia
[2] Univ Kentucky, Gluck Equine Res Ctr, Lexington, KY 40546 USA
[3] Univ Sydney, Sydney Informat Hub, Sydney, NSW 2006, Australia
来源
ANIMALS | 2024年 / 14卷 / 14期
关键词
mendelian; trait; disease; genetic; variant; ontology; VARIANTS;
D O I
10.3390/ani14142069
中图分类号
S8 [畜牧、 动物医学、狩猎、蚕、蜂];
学科分类号
0905 ;
摘要
Simple Summary: Online Mendelian Inheritance in Animals (OMIA) is a freely available online resource for information on inherited traits/diseases (called phenes) in animals, including Equus caballus (horse) and eight other Equus subgroups. Maintaining up-to-date information in OMIA is a major challenge, especially in relation to variants (mutations), as reference genomes continue to evolve. The site is curated by faculty at the University of Sydney based on publications of peer-reviewed research. Curation has been aided by contributions from faculty and students at other institutions. Recently, OMIA has introduced computerized lists of standardized names and synonyms (called ontologies) for breeds of horses and other animal species 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 Equus. Online Mendelian Inheritance in Animals (OMIA is a freely available information resource, which includes information for Equus 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 Equus 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 Equus.
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页数:8
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