Online Mendelian Inheritance in Man (OMIM)

 描述（由申请人提供）：该项目将继续维护和更新在线孟德尔遗传在人（OMIM（r）），遗传疾病和基因的独特策划知识库，已成为临床遗传学家和分子生物学，遗传学和基因组学研究人员的重要资源近50年。OMIM可在网站OMIM.org上免费获得。OMIM的主要重点是描绘和描述人类疾病和特征与其基础基因之间日益复杂和微妙的关系。OMIM的更新基于对生物医学文献的专家审查。与原始数据的数据库不同，OMIM综合和总结了新的和重要的信息，这些信息以结构化的格式输入。数据库的管理，包括疾病分类，创建新的表型和基因条目，以及更新22，300多个现有条目，由具有OMIM丰富经验和在阐明疾病遗传基础的编目信息方面的专业知识的工作人员进行。OMIM条目和临床概要映射到结构化语言资源，如ICD 9/10、SNOMED、HPO和UMLS。OMIM的基因图谱和疾病图谱提供了基因和疾病之间关系的浓缩视图。OMIM有一个强大的API来促进OMIM数据的计算调查和集成。OMIM的稳定性和权威性是国际公认的，MIM编号包含在许多医学亚专业的文章中。OMIM.org在全世界每天有数千名用户，随着基因组学在所有医学领域变得更加不可或缺，这一数字预计还会增加。OMIM利用来自其他资源的数据来增强其独特的内容，并与其他信息学资源和策展工作合作，以提供对医学基因组信息的用户友好访问。OMIM将继续在专家科学咨询委员会的支持下，并与其日益扩大的用户群进行协商，以具有成本效益的方式运作。OMIM对人类表型和基因的描述具有无与伦比的广度和丰富性，将继续为临床医生和研究人员提供权威和及时的支持。

 DESCRIPTION (provided by applicant): This project will continue the maintenance and updating of Online Mendelian Inheritance in Man (OMIM(r)), a unique curated knowledgebase of genetic disorders and genes that has been an essential resource for clinical geneticists and researchers in molecular biology, genetics, and genomics for nearly 50 years. OMIM is freely available on the website OMIM.org. The primary focus of OMIM is the delineation and description of the increasingly complex and nuanced relationships between human disorders and traits and the genes that underlie them. Updating of OMIM is based on expert review of the biomedical literature. Unlike databases of primary data, OMIM synthesizes and summarizes new and important information, which is entered in a structured format. The curation of the database, including classification of disease, the creation of new phenotype and gene entries, and updates to the over 22,300 existing entries, is performed by staff members who have extensive experience with OMIM and expertise in cataloging information that elucidates the genetic basis of disease. The OMIM entries and clinical synopses are mapped to structured language resources such as ICD9/10, SNOMED, HPO, and the UMLS. OMIM's gene map and morbid map provide a condensed view of the relationship between genes and disease. OMIM has a robust API to facilitate computational survey and integration of OMIM data. OMIM's stability and authority are internationally recognized, and MIM numbers are included in articles across many medical subspecialties. OMIM.org has thousands of daily users worldwide and this number is expected to increase as genomics becomes more integral to all fields of medicine. OMIM leverages data from other resources to enhance its unique content and collaborates with other informatics resources and curation efforts to provide user-friendly access to medical genomic information. OMIM will continue to operate in a cost-effective manner with the support of an expert scientific advisory board and consultations with its growing user base. With an unparalleled breadth and richness of description of human phenotypes and genes, OMIM will continue to provide authoritative and timely support to clinicians and researchers.