在线搜索人类孟德尔遗传(OMIM):人类基因和遗传表型的知识库

Q1 Biochemistry, Genetics and Molecular Biology

Current protocols in bioinformatics Pub Date : 2017-06-27 DOI:10.1002/cpbi.27

Joanna S. Amberger, Ada Hamosh

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引用次数: 365

摘要

在线人类孟德尔遗传(OMIM)在OMIM.org上是关于基因和遗传表型以及它们之间关系的综合、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。org可以链接到许多相关的和互补的数据库，方便地访问一个主题的更多信息。基因和遗传性疾病之间的关系是突出在这个单元。基本方案解释了从基因角度和临床特征角度搜索OMIM。两种备选方案提供了查看基因表型关系的策略:基因图谱表和快速视图或临床特征的并排格式。org每天都会更新，支持协议中描述的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 by John Wiley &儿子,Inc。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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

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.

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Current protocols in bioinformatics Biochemistry, Genetics and Molecular Biology-Biochemistry

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期刊介绍： With Current Protocols in Bioinformatics, it"s easier than ever for the life scientist to become "fluent" in bioinformatics and master the exciting new frontiers opened up by DNA sequencing. Updated every three months in all formats, CPBI is constantly evolving to keep pace with the very latest discoveries and developments.