Online Mendelian Inheritance In Man (OMIM)
By Ada Hamosh, Alan F. Scott, Joanna S. Amberger, D. Valle, Victor A. McKusick. Human Mutation, 2000
1,419 citations recorded by the source corpus.
Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference Mendelian Inheritance in Man, it is now distributed electronically by the National Center for Biotechnology Information (NCBI). Material in OMIM is derived from the biomedical literature and is written by Dr. McKusick and his colleagues at Johns Hopkins University and elsewhere. Each OMIM entry has a full text summary of a genetic phenotype and/or gene and has copious links to other genetic resources such as DNA and protein sequence, PubMed references, mutation databases, approved gene nomenclature, and more. In addition, NCBI's neighboring feature allows users to identify related articles from PubMed selected on the basis of key words in the OMIM entry. Through its many features, OMIM is increasingly becoming a major gateway for clinicians, students, and basic researchers to the ever‐growing literature and resources of human genetics. Hum Mutat 15:57–61, 2000. © 2000 Wiley‐Liss, Inc.
Subfields: Clinical Biochemistry, Genetics
View Paper: https://www.semanticscholar.org/paper/64ac2a353dba1cf9ad90b76f54ef18088077641d
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In Genetics
Citations in the corpus
- A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster. (2001, methodology): “Here, we report on results generated by a crossgenomic analysis of the 929 Locuslink entries of human disease genes known to have at least one mutant allele listed in the current version of the Online Mendelian Inheritance in Man (OMIM) (McKusick 2000) against the complete Drosophila genome sequence”
- New friendly tools for users of ESTHER, the database of the alpha/beta-hydrolase fold superfamily of proteins. (2005, background): “table), and links to bibliography reports, gene mutations and the OMIM database [13] are provided.”