Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.
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DOI：
10.1002/ajmg.a.62407
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发表时间：
2021-11
期刊：
影响因子：
--
通讯作者：
Rasmussen SA
中科院分区：
文献类型：
--
作者：
Hamosh A;Amberger JS;Bocchini C;Scott AF;Rasmussen SA
维克托·麦库西克对医学的许多贡献是传奇性的，但他的代表作是《人类的孟德尔遗传》（MIM），他的孟德尔表型及其相关基因目录。该目录最初于1966年以书籍形式出版，于1987年在互联网上以在线孟德尔遗传人类（OMIM®）的形式提供。MIM的12个版本中的第一个包括1486个条目;截至2021年4月，OMIM的这一数字已增加到超过25，000个条目，这表明多年来有关孟德尔表型及其基因的知识不断增长。OMIM现在每天有超过20，000个独立用户，包括来自世界每个国家的用户。McKusick所做的许多早期决定，例如以计算机可读格式维护MIM数据，将表型条目与基因条目分开，以及给予表型和基因MIM编号，已被证明对他的目录的长期实用性和灵活性至关重要。基于他对遗传学的广泛了解及其在医学领域的未来愿景，他开发了一个框架，用于从已发表的表型及其相关基因文献中捕获和总结信息;该目录继续作为遗传学界不可或缺的资源。
Victor McKusick's many contributions to medicine are legendary, but his magnum opus is Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their associated genes. The catalog, originally published in 1966 in book form, became available on the internet as Online Mendelian Inheritance in Man (OMIM®) in 1987. The first of 12 editions of MIM included 1486 entries; this number has increased to over 25,000 entries in OMIM as of April 2021, which demonstrates the growth of knowledge about Mendelian phenotypes and their genes through the years. OMIM now has over 20,000 unique users a day, including users from every country in the world. Many of the early decisions made by McKusick, such as to maintain MIM data in a computer‐readable format, to separate phenotype entries from those for genes, and to give phenotypes and genes MIM numbers, have proved essential to the long‐term utility and flexibility of his catalog. Based on his extensive knowledge of genetics and vision of its future in the field of medicine, he developed a framework for the capture and summary of information from the published literature on phenotypes and their associated genes; this catalog continues to serve as an indispensable resource to the genetics community.
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Mendelian在人类及其在线版本中的继承Omim。
影响因子：
9.8
作者：
McKusick, Victor A.
通讯作者：
McKusick, Victor A.
影响因子：
8.8
作者：
Bean, Lora J. H.;Funke, Birgit;Bayrak-Toydemir, Pinar
通讯作者：
Bayrak-Toydemir, Pinar
影响因子：
8.8
作者：
Rehder, Catherine;Bean, Lora J. H.;Vincent, Lisa M.
通讯作者：
Vincent, Lisa M.
影响因子：
14.9
作者：
PEARSON, P;FRANCOMANO, C;MCKUSICK, V
通讯作者：
MCKUSICK, V
影响因子：
14.9
作者：
Amberger JS;Bocchini CA;Schiettecatte F;Scott AF;Hamosh A
通讯作者：
Hamosh A