Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
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DOI：
10.1093/nar/30.1.52
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发表时间：
2002-01-01
影响因子：
14.9
通讯作者：
McKusick, VA
中科院分区：
文献类型：
--
作者：
Hamosh, A;Scott, AF;McKusick, VA
在线人类孟德尔遗传（OMIM）是一个全面、权威和及时的人类基因和遗传疾病知识库，旨在支持人类基因组学和临床遗传学的研究和教育。OMIM （www.ncbi.nlm.nih.gov/omim）由Victor A. McKusick博士发起，作为人类孟德尔遗传的权威参考，现在由国家生物技术信息中心（NCBI）以电子方式分发，并与Entrez数据库套件集成。OMIM源自生物医学文献，由约翰霍普金斯大学撰写和编辑，并得到了世界各地科学家和医生的意见。每个OMIM条目都有基因决定的表型和/或基因的全文摘要，并有许多其他遗传数据库的链接，如DNA和蛋白质序列，PubMed参考文献，一般和特定位点突变数据库，批准的基因命名法，以及非常详细的地图查看器，以及患者支持小组和许多其他。OMIM是一个简单和直接的门户网站，以迅速发展的信息在人类遗传学。
Online Mendelian Inheritance in Man (OMIM(TM)) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support research and education in human genomics and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive referenceMendelian Inheritance in Man, OMIM (www.ncbi.nlm.nih.gov/omim) is now distributed electronically by the National Center for Biotechnology Information (NCBI), where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, approved gene nomenclature, and the highly detailed mapviewer, as well as patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.