Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.
Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.
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DOI：
10.1002/cpbi.27
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发表时间：
2017-06-27
影响因子：
--
通讯作者：
Hamosh A
中科院分区：
文献类型：
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作者：
Amberger JS;Hamosh A
在线人类孟德尔遗传（OMIM）OMIM.org是关于基因和遗传表型以及它们之间关系的综合，策划信息的主要存储库。本单元概述了OMIM中的信息类型以及搜索和检索信息的最佳策略。OMIM.org提供了许多相关和补充数据库的链接，可以方便地探索有关某个主题的更多信息。基因和遗传性疾病之间的关系是突出在这个单位。基本方案解释了从基因和临床特征的角度搜索OMIM。两种替代方案提供了将基因-表型关系视为基因图谱表和将临床特征视为快速查看或并排格式的策略。OMIM.org每晚更新，支持协议中描述的MIMmatch服务提供了一种便捷的方式来跟踪条目更新、基因-表型关系以及与其他研究人员合作。
Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases providing easy access to exploring more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene then clinical features perspective. Two alternate protocols provide strategies for viewing gene-phenotype relationships as a gene map table and clinical features as a Quick View or Side-by-Side format. OMIM.org is updated nightly and the MIMmatch service, described in the Support Protocol, provides a convenient way to follow updates to entries, gene-phenotype relationships, and collaborate with other researchers.