Suppr超能文献

在《人类孟德尔遗传在线》(OMIM)中搜索有关人类疾病相关基因座的信息。

Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease.

作者信息

Borate Bhavesh, Baxevanis Andreas D

出版信息

Curr Protoc Bioinformatics. 2009 Sep;Chapter 1:Unit 1.2. doi: 10.1002/0471250953.bi0102s27.

Abstract

Online Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can be retrieved from OMIM, including descriptions of clinical manifestations resulting from genetic abnormalities. This unit also provides information on additional relevant medical and molecular biology databases. A basic knowledge of OMIM should be part of the armamentarium of physicians and scientists with an interest in research on and clinical aspects of genetic disorders.

摘要

《人类孟德尔遗传在线》(OMIM)是关于人类基因和遗传疾病的全面信息汇编,特别强调观察到的表型与潜在基因型之间的相互作用。本单元重点介绍制定OMIM搜索的基本方法,并说明可从OMIM检索到的信息类型,包括遗传异常导致的临床表现描述。本单元还提供有关其他相关医学和分子生物学数据库的信息。对遗传疾病研究和临床方面感兴趣的医生和科学家应具备OMIM的基本知识。

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