Mendelian Inheritance in Man and Its Online Version, OMIM

By Victor A. McKusick. American Journal of Human Genetics, 2007

760 citations recorded by the source corpus.

Last year marked the 40th anniversary of the publication of the first print edition of Mendelian Inheritance in Man (MIM).1 This seems an appropriate juncture at which to review its origins, evolution, and present status, including and particularly those of its online version, OMIM (Online Mendelian Inheritance in Man). This is an opportunity, at the same time, to review in brief the rapid progress in an important part of medical genetics and genomics, as chronicled in MIM/OMIM over these 40 years, and to contemplate the future challenges of OMIM.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/db56e1b75e7d1141240be90099077c0e81754e33

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Citations in the corpus

ProDiGe: Prioritization Of Disease Genes with multitask machine learning from positive and unlabeled examples (2011, methodology): “A disease is described in the OMIM database by a text record [25].”
Network-based prediction of human tissue-specific metabolism (2008, background): “Tissue-specific analysis of metabolic disease genes We focused on 60 known disease-causing genes in the OMIM databas”
Network-based global inference of human disease genes (2008, methodology): “This is of great importance because no causative genes have been identiﬁed for half of the OMIM phenotypes (McKusick, 2007).”
Dynamic modularity in protein interaction networks predicts breast cancer outcome (2009, methodology): “We queried Online Mendelian Inheritance in Man (OMIM”
The Human Gene Mutation Database: 2008 update (2009, neutral): “complementary data sources are provided here (Genome Database (GDB) [4], Online Mendelian Inheritance in Man (OMIM) [5], HUGO Gene Nomenclature Committee (HGNC) [6], Entrez Gene [7], GeneCards [8], GenAtlas [9], GeneClinics [10], UniGene [11], SwissProt [12] and the Human Protein Reference Database ”
Integrated Genomic Analyses of Ovarian Carcinoma (2011, background): “Levine(18), Nikolaus Schultz(9), Robert Sheridan(9), Anil K.”
Disease candidate gene identification and prioritization using protein interaction networks (2009, methodology): “Cardiac septal defect candidate gene prioritization Mining the "clinical synopsis" and "allelic variant sections" of NCBI's OMIM (Online Mendelian Inheritance in Man) database [ 49 ], we extracted 166 OMIM records that had the terms "atrial septal defect" OR "ASD" OR "ventricular septal defect" OR "”
The Diploid Genome Sequence of an Individual Human (2007, methodology): “A preliminary assessment indicates that 857 OMIM genes have at least one heterozygous variant in the coding or UTR regions, and 314 OMIM genes have at least one nonsynonymous SNP (Figure 14A).”
The Next-Generation Sequencing Revolution and Its Impact on Genomics (2013, neutral): “The impact of NGS technologies on rare genetic diseases is further evidenced by the growth of the Online Mendelian Inheritance in Man (OMIM) database (McKusick, 2007), in which the number of inherited phenotypes for which the molecular basis is known has nearly doubled since 2007 (Table 2).”
Exome sequencing as a tool for Mendelian disease gene discovery (2011, neutral): “org/entry/603903">sickle cell anaemia ) have been discovere”