Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals.

IF 2.7 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Mammalian Genome Pub Date : 2024-12-01 Epub Date: 2024-08-14 DOI:10.1007/s00335-024-10059-y
Imke Tammen, Marius Mather, Tosso Leeb, Frank W Nicholas
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Abstract

Online Mendelian Inheritance in Animals (OMIA) is a freely available curated knowledgebase that contains information and facilitates research on inherited traits and diseases in animals. For the past 29 years, OMIA has been used by animal geneticists, breeders, and veterinarians worldwide as a definitive source of information. Recent increases in curation capacity and funding for software engineering support have resulted in software upgrades and commencement of several initiatives, which include the enhancement of variant information and links to human data resources, and the introduction of ontology-based breed information and categories. We provide an overview of current information and recent enhancements to OMIA and discuss how we are expanding the integration of OMIA into other resources and databases via the use of ontologies and the adaptation of tools used in human genetics.

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在线动物孟德尔遗传(OMIA):脊椎动物遗传资源。
Online Mendelian Inheritance in Animals (OMIA) 是一个免费提供的知识库,其中包含有关动物遗传性状和疾病的信息,并为相关研究提供便利。在过去的 29 年中,OMIA 已被世界各地的动物遗传学家、育种家和兽医用作权威的信息来源。最近,由于软件工程支持能力和资金的增加,软件得到了升级,并开始实施多项计划,其中包括加强变异信息和与人类数据资源的链接,以及引入基于本体的品种信息和类别。我们将概述 OMIA 的当前信息和最新增强功能,并讨论我们如何通过使用本体论和调整人类遗传学中使用的工具,将 OMIA 扩展到其他资源和数据库中。
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来源期刊
Mammalian Genome
Mammalian Genome 生物-生化与分子生物学
CiteScore
4.00
自引率
0.00%
发文量
33
审稿时长
6-12 weeks
期刊介绍: Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.
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