• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

在线孟德尔遗传动物数据库(OMIA):脊椎动物的遗传资源。

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

机构信息

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

Sydney Informatics Hub, The University of Sydney, Sydney, NSW, 2006, Australia.

出版信息

Mamm Genome. 2024 Dec;35(4):556-564. doi: 10.1007/s00335-024-10059-y. Epub 2024 Aug 14.

DOI:10.1007/s00335-024-10059-y
PMID:39143381
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11522177/
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.

摘要

在线孟德尔遗传数据库(OMIA)是一个免费提供的经过精心整理的知识库,其中包含有关动物遗传特征和疾病的信息,并为相关研究提供便利。在过去的 29 年中,OMIA 被全球的动物遗传学家、饲养员和兽医用作信息的权威来源。最近,由于对软件工程的支持进行了人员扩充和资金投入,我们对软件进行了升级,并启动了多个项目,其中包括增强了变体信息和与人的数据资源的链接,并引入了基于本体的品种信息和类别。我们提供了 OMIA 的当前信息和最近增强功能的概述,并讨论了我们如何通过使用本体和适应人类遗传学中使用的工具来扩展 OMIA 与其他资源和数据库的整合。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0424/11522177/eee7d3bb5a8b/335_2024_10059_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0424/11522177/eee7d3bb5a8b/335_2024_10059_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0424/11522177/eee7d3bb5a8b/335_2024_10059_Fig1_HTML.jpg

相似文献

1
Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals.在线孟德尔遗传动物数据库(OMIA):脊椎动物的遗传资源。
Mamm Genome. 2024 Dec;35(4):556-564. doi: 10.1007/s00335-024-10059-y. Epub 2024 Aug 14.
2
in Online Mendelian Inheritance in Animals (OMIA).在《动物在线孟德尔遗传》(OMIA)中。
Animals (Basel). 2024 Jul 15;14(14):2069. doi: 10.3390/ani14142069.
3
Online Mendelian Inheritance in Animals (OMIA): a record of advances in animal genetics, freely available on the Internet for 25 years.在线动物孟德尔遗传数据库(OMIA):25 年来,动物遗传学的进展记录在互联网上免费提供。
Anim Genet. 2021 Feb;52(1):3-9. doi: 10.1111/age.13010. Epub 2020 Nov 6.
4
OMIA (Online Mendelian Inheritance in Animals): an enhanced platform and integration into the Entrez search interface at NCBI.OMIA(动物在线孟德尔遗传):一个增强型平台及其与美国国立医学图书馆国家生物技术信息中心(NCBI)的Entrez搜索界面的整合。
Nucleic Acids Res. 2006 Jan 1;34(Database issue):D599-601. doi: 10.1093/nar/gkj152.
5
Online Mendelian Inheritance in Animals (OMIA): a comparative knowledgebase of genetic disorders and other familial traits in non-laboratory animals.动物在线孟德尔遗传(OMIA):非实验动物遗传疾病和其他家族性性状的比较知识库。
Nucleic Acids Res. 2003 Jan 1;31(1):275-7. doi: 10.1093/nar/gkg074.
6
Internet resources cataloguing inherited disorders in dogs.互联网资源对犬遗传性疾病进行编目。
Vet J. 2011 Aug;189(2):132-5. doi: 10.1016/j.tvjl.2011.06.009. Epub 2011 Jul 6.
7
Genetic databases: online catalogues of inherited disorders.遗传数据库:遗传性疾病的在线目录。
Rev Sci Tech. 1998 Apr;17(1):346-50. doi: 10.20506/rst.17.1.1101.
8
Database resources of the National Center for Biotechnology Information.美国国立生物技术信息中心的数据库资源。
Nucleic Acids Res. 2007 Jan;35(Database issue):D5-12. doi: 10.1093/nar/gkl1031. Epub 2006 Dec 14.
9
Snat: a SNP annotation tool for bovine by integrating various sources of genomic information.Snat:一个整合了多种基因组信息的牛 SNP 注释工具。
BMC Genet. 2011 Oct 7;12:85. doi: 10.1186/1471-2156-12-85.
10
The Bioinformatics Links Directory: a compilation of molecular biology web servers.生物信息学链接目录:分子生物学网络服务器汇编
Nucleic Acids Res. 2005 Jul 1;33(Web Server issue):W3-24. doi: 10.1093/nar/gki594.

引用本文的文献

1
An Overview of Developmental Disorders Leading to Dystocia in Cattle.导致牛难产的发育障碍概述。
Reprod Domest Anim. 2025 Sep;60 Suppl 3(Suppl 3):e70083. doi: 10.1111/rda.70083.
2
Towards precision pain management in veterinary practise: opportunities and barriers.迈向兽医实践中的精准疼痛管理:机遇与障碍。
Front Vet Sci. 2025 Aug 15;12:1658765. doi: 10.3389/fvets.2025.1658765. eCollection 2025.
3
Detection of Arachnomelia Syndrome in Simmental Cattle in Türkiye.土耳其西门塔尔牛中蛛状肢综合征的检测

本文引用的文献

1
Predicted genetic burden and frequency of phenotype-associated variants in the horse.马的遗传负担预测和表型相关变异的频率。
Sci Rep. 2024 Apr 10;14(1):8396. doi: 10.1038/s41598-024-57872-8.
2
A comparative medical genomics approach may facilitate the interpretation of rare missense variation.比较医学基因组学方法可能有助于解释罕见的错义变异。
J Med Genet. 2024 Jul 19;61(8):817-821. doi: 10.1136/jmg-2023-109760.
3
Database resources of the National Center for Biotechnology Information.国家生物技术信息中心数据库资源。
Vet Med Sci. 2025 Jul;11(4):e70442. doi: 10.1002/vms3.70442.
4
Analysis of canine gene constraint identifies new variants for orofacial clefts and stature.犬类基因限制分析确定了口面部裂隙和身高的新变异。
Genome Res. 2025 May 2;35(5):1080-1093. doi: 10.1101/gr.280092.124.
5
The Prevalence of Corneal Disorders in Pugs Attending Primary Care Veterinary Practices in Australia.澳大利亚初级保健兽医诊所就诊的哈巴狗角膜疾病患病率。
Animals (Basel). 2025 Feb 13;15(4):531. doi: 10.3390/ani15040531.
6
Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.制定和验证动物变异分类指南以客观评估家畜基因变异的致病性。
Front Vet Sci. 2024 Dec 5;11:1497817. doi: 10.3389/fvets.2024.1497817. eCollection 2024.
7
Genetic Testing: practical dos and don'ts for cats.基因检测:猫的实用注意事项
J Feline Med Surg. 2024 Dec;26(12):1098612X241303603. doi: 10.1177/1098612X241303603.
8
Investigating the relationship between inbreeding and life expectancy in dogs: mongrels live longer than pure breeds.研究犬类近亲繁殖与预期寿命的关系:杂种犬比纯种犬寿命更长。
PeerJ. 2023 Jul 19;11:e15718. doi: 10.7717/peerj.15718. eCollection 2023.
Nucleic Acids Res. 2024 Jan 5;52(D1):D33-D43. doi: 10.1093/nar/gkad1044.
4
Mouse phenome database: curated data repository with interactive multi-population and multi-trait analyses.小鼠表型数据库:经过精心整理的数据存储库,具有交互式多群体和多特征分析功能。
Mamm Genome. 2023 Dec;34(4):509-519. doi: 10.1007/s00335-023-10014-3. Epub 2023 Aug 15.
5
Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.超过 100 万只犬种中犬孟德尔遗传疾病变异的遗传流行率和临床相关性。
PLoS Genet. 2023 Feb 27;19(2):e1010651. doi: 10.1371/journal.pgen.1010651. eCollection 2023 Feb.
6
Ensembl 2023.Ensembl 2023.
Nucleic Acids Res. 2023 Jan 6;51(D1):D933-D941. doi: 10.1093/nar/gkac958.
7
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.11000 多只家猫的血型、疾病和特征变体的遗传流行病学,以及全基因组遗传多样性。
PLoS Genet. 2022 Jun 16;18(6):e1009804. doi: 10.1371/journal.pgen.1009804. eCollection 2022 Jun.
8
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.基因保存联盟:全球协同统一基因-疾病证据资源
Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
9
seqr: A web-based analysis and collaboration tool for rare disease genomics.seqr:一个用于罕见病基因组学的基于网络的分析和协作工具。
Hum Mutat. 2022 Jun;43(6):698-707. doi: 10.1002/humu.24366. Epub 2022 Mar 21.
10
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.ClinGen 变异体管理界面:一个用于应用 ACMG/AMP 指南证据标准的变异体分类平台。
Genome Med. 2022 Jan 18;14(1):6. doi: 10.1186/s13073-021-01004-8.