Online Mendelian Inheritance in Man ( OMIM ®): Victor McKusick 's magnum opus

Autor: Joanna S. Amberger, Alan F. Scott, Ada Hamosh, Sonja A. Rasmussen, Carol A. Bocchini
Rok vydání: 2021
Předmět:
Zdroj: American Journal of Medical Genetics. Part a
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.62407
Popis: 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.
Databáze: OpenAIRE
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