OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
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DOI：
10.1093/nar/gku1205
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发表时间：
2015-01
影响因子：
14.9
通讯作者：
Hamosh A
中科院分区：
文献类型：
--
作者：
Amberger JS;Bocchini CA;Schiettecatte F;Scott AF;Hamosh A
在线人类孟德尔遗传，OMIM®，是一个全面，权威和及时的研究资源，对人类基因和表型及其之间的关系进行了精心描述。OMIM的新官方网站OMIM.org （http://omim.org）于2011年1月上线。OMIM以已发表的同行评议的生物医学文献为基础，供重叠且多样化的临床医生、分子生物学家和基因组科学家群体以及这些学科的学生和教师使用。基因和表型在单独的条目中描述，并给予唯一的，稳定的六位数标识符（MIM号）。OMIM条目具有结构化的自由文本格式，提供了以有效方式描述基因和遗传表型之间复杂而微妙的关系所需的灵活性。OMIM也有一个基因和遗传表型的衍生表，即病态地图。org增强了搜索功能，如基因组坐标搜索和同义词典增强的搜索词选项。表型系列的创建是为了方便观察表型的遗传异质性。临床摘要的特点是增强与UMLS，人类表型本体和要素形态学术语和图像链接。所有OMIM数据都可以通过FTP下载或通过API下载。MIMmatch是一种新颖的外联功能，用于传播更新和鼓励协作。
Online Mendelian Inheritance in Man, OMIM®, is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the published peer-reviewed biomedical literature and is used by overlapping and diverse communities of clinicians, molecular biologists and genome scientists, as well as by students and teachers of these disciplines. Genes and phenotypes are described in separate entries and are given unique, stable six-digit identifiers (MIM numbers). OMIM entries have a structured free-text format that provides the flexibility necessary to describe the complex and nuanced relationships between genes and genetic phenotypes in an efficient manner. OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map. OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes. Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links. All OMIM data are available for FTP download and through an API. MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.
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影响因子：
3.9
作者：
Amberger, Joanna;Bocchini, Carol;Hamosh, Ada
通讯作者：
Hamosh, Ada
影响因子：
14.9
作者：
Köhler S;Doelken SC;Mungall CJ;Bauer S;Firth HV;Bailleul-Forestier I;Black GC;Brown DL;Brudno M;Campbell J;FitzPatrick DR;Eppig JT;Jackson AP;Freson K;Girdea M;Helbig I;Hurst JA;Jähn J;Jackson LG;Kelly AM;Ledbetter DH;Mansour S;Martin CL;Moss C;Mumford A;Ouwehand WH;Park SM;Riggs ER;Scott RH;Sisodiya S;Van Vooren S;Wapner RJ;Wilkie AO;Wright CF;Vulto-van Silfhout AT;de Leeuw N;de Vries BB;Washingthon NL;Smith CL;Westerfield M;Schofield P;Ruef BJ;Gkoutos GV;Haendel M;Smedley D;Lewis SE;Robinson PN
通讯作者：
Robinson PN
DOI：
10.1038/gim.2012.136
发表时间：
2013-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
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在孟德尔疾病的外显子组测序研究中，遍历相互作用组以确定候选者的优先顺序。
DOI：
10.1093/bioinformatics/btu508
发表时间：
2014-11-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Smedley D;Köhler S;Czeschik JC;Amberger J;Bocchini C;Hamosh A;Veldboer J;Zemojtel T;Robinson PN
通讯作者：
Robinson PN
影响因子：
14.9
作者：
Landrum MJ;Lee JM;Riley GR;Jang W;Rubinstein WS;Church DM;Maglott DR
通讯作者：
Maglott DR