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Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus
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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596664/ https://www.ncbi.nlm.nih.gov/pubmed/34169650 http://dx.doi.org/10.1002/ajmg.a.62407 |
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author | Hamosh, Ada Amberger, Joanna S. Bocchini, Carol Scott, Alan F. Rasmussen, Sonja A. |
author_facet | Hamosh, Ada Amberger, Joanna S. Bocchini, Carol Scott, Alan F. Rasmussen, Sonja A. |
author_sort | Hamosh, Ada |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8596664 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-85966642021-11-22 Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus Hamosh, Ada Amberger, Joanna S. Bocchini, Carol Scott, Alan F. Rasmussen, Sonja A. Am J Med Genet A Original Articles 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. John Wiley & Sons, Inc. 2021-06-24 2021-11 /pmc/articles/PMC8596664/ /pubmed/34169650 http://dx.doi.org/10.1002/ajmg.a.62407 Text en © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Original Articles Hamosh, Ada Amberger, Joanna S. Bocchini, Carol Scott, Alan F. Rasmussen, Sonja A. Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus |
title | Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus |
title_full | Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus |
title_fullStr | Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus |
title_full_unstemmed | Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus |
title_short | Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus |
title_sort | online mendelian inheritance in man (omim®): victor mckusick's magnum opus |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596664/ https://www.ncbi.nlm.nih.gov/pubmed/34169650 http://dx.doi.org/10.1002/ajmg.a.62407 |
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