The source of information for OMIM is the peer-reviewed biomedical literature. Review of high-impact journals, targeted searches of PubMed for unique phenotype–gene relationships, user-provided suggestions, and articles identified in the curation process are tracked and computationally tagged for gene, disease, and mutation concepts using PubTator (3). Articles for review and triage are pulled from the publishers’ websites to ensure timely access to the final, edited version of articles and supplemental information. Priority for inclusion into OMIM is given to papers that define new gene-phenotype relationships, significantly expand our understanding of human biology, or substantially contribute to the complete clinical characterization of a disorder and disease etiology and pathogenesis. Creation and curation of OMIM entries and data is performed by fulltime expert staff at Johns Hopkins University School of Medicine in consultation as necessary with subject domain experts. OMIM does not include all articles on a topic; to facilitate access to additional articles on a topic that are not in OMIM, a ‘reference plus’ icon appears after each paragraph. Clicking on this icon will bring up other articles in PubMed with content similar to the references in the OMIM entry paragraph.
