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检索《人类孟德尔遗传在线》（OMIM）：人类基因与遗传表型知识库。

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.

作者信息

Amberger Joanna S, Hamosh Ada

机构信息

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

出版信息

Curr Protoc Bioinformatics. 2017 Jun 27;58:1.2.1-1.2.12. doi: 10.1002/cpbi.27.

DOI:10.1002/cpbi.27
PMID:28654725
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5662200/
Abstract

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 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 perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene-phenotype relationships: a gene map table and Quick View or Side-by-Side format for clinical features. 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. © 2017 by John Wiley & Sons, Inc.

摘要

位于OMIM.org的《人类孟德尔遗传在线》（OMIM）是有关基因、遗传表型及其相互关系的全面、经整理信息的主要储存库。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链接到许多相关和补充数据库，便于获取有关某一主题的更多信息。本单元重点介绍了基因与遗传疾病之间的关系。基本方案解释了从基因角度和临床特征角度搜索OMIM的方法。另外两个方案提供了查看基因-表型关系的策略：基因图谱表以及临床特征的快速查看或并排格式。OMIM.org每晚更新，支持方案中描述的MIMmatch服务提供了一种方便的方式来跟踪条目、基因-表型关系的更新，并与其他研究人员合作。© 2017约翰威立国际出版公司

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