Online Mendelian Inheritance in Man (OMIM)

在线人类孟德尔遗传 (OMIM)

• 批准号: 8663605
• 负责人: ADA HAMOSH
• 金额: $ 209.04万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-06-12 至 2015-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8663605
• 关键词: Bioinformatics; Biotechnology; California; Cataloging; Catalogs; Chromosome Deletion; Classification; Clinical; Collection; Commit; Communication; Communities; Complex; Development; Diagnosis; Disease; Education; Family; Fostering; Funding; Genes; Genetic; Genetic Research; Genome; Genomics; Grant; Head; Hereditary Disease; Human; Human Genetics; Human Genome; Informatics; Information Resources; International; Internet; Journals; Life; Link; Maintenance; Maps; Medicine; Mission; Molecular; Molecular Biology; Online Mendelian Inheritance In Man; Ontology; Patients; Phenotype; Positioning Attribute; Production; Reporting; Research Personnel; Resources; SNOMED Clinical Terms; Scientist; Secure; Standardization; Structure; Syndrome; Systematized Nomenclature of Medicine; Training Support; Unified Medical Language System; Universities; Update; Variant; authority; base; clinical practice; data mining; experience; gene discovery; genetic variant; genome sequencing; genome-wide; improved; knowledge base; malformation; meetings; member; model organisms databases; mouse genome; novel; trait; web site

DESCRIPTION (provided by applicant): Online Mendelian Inheritance in Man (OMIM.) is a knowledgebase of genetic disorders and genes. Initially created by Dr. Victor McKusick in 1966 as Mendelian Inheritance in Man, OMIM has been freely available on the internet/web since 1987. In December 2010, omim.org, funded by Johns Hopkins University, went live, hosted by UCSC Genome Informatics. OMIM is the premier resource for clinical geneticists and for researchers in molecular biology, genetics, and genomics. With detailed descriptions of over 7,000 disorders and more than 13,600 genes, OMIM has an unparalleled breadth and richness of description of human phenotypic variation. OMIM's stability and authority are internationally recognized, and MIM numbers are required by most human genetics journals. Thousands of users access OMIM daily from around the world. OMIM includes the Morbid Map of the Human Genome, which catalogs the relationship between human disorders (~4300) and the genes (~2500) that cause them. The other ~3000 disorders in OMIM whose molecular basis is currently unknown, as well as disorders not yet defined, will quickly yield to the application of genome-wide sequencing. OMIM is uniquely positioned to organize and present this onslaught of new biomedical information. We plan to collaborate with Mendelian sequencing centers and act as a portal to facilitate the collection of families with Mendelian disorders and to make the results of those studies available through OMIM. To facilitate data mining of OMIM, we have added 1CD9/10 and SNOMEDCT numbers to OMIM entries and plan to add UMLS, SNOMED, HPO and other ontology classifications to the features of OMIM's clinical synopses. OMIM staff members have extensive experience on the project and provide expertise that is critical in elucidating the complexity of human Mendelian diseases and their classification. OMIM will continue to develop and provide authoritative and timely support to the practice of genomic medicine.

描述（由申请人提供）：在线孟德尔遗传在人（OMIM。）is a knowledgebase知识库of genetic遗传disorders疾病and genes基因.最初由维克托·麦库西克博士于1966年作为人类的孟德尔遗传而创建，自1987年以来，OMIM已在互联网/网络上免费提供。2010年12月，由约翰霍普金斯大学资助的omim.org上线，由UCSC基因组信息学公司主办。OMIM是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首要资源。OMIM详细描述了7,000多种疾病和13,600多个基因，对人类表型变异的描述具有无与伦比的广度和丰富性。OMIM的稳定性和权威性是国际公认的，大多数人类遗传学期刊都需要MIM编号。每天有成千上万的用户从世界各地访问OMIM。 OMIM包括人类基因组的病态地图，其中列出了人类疾病（~4300）和导致它们的基因（~2500）之间的关系。OMIM中的其他约3000种疾病，其分子基础目前尚不清楚，以及尚未定义的疾病，将很快产生全基因组测序的应用。OMIM是唯一的定位，组织和目前这一冲击的新的生物医学信息。我们计划与孟德尔测序中心合作，并作为一个门户网站，以促进孟德尔疾病家族的收集，并通过OMIM提供这些研究的结果。为了方便OMIM的数据挖掘，我们已经添加了1CD 9/10和SNOMEDCT数字OMIM条目，并计划添加UMLS，SNOMED，HPO和其他本体分类OMIM的临床概要的功能。OMIM的工作人员在该项目上拥有丰富的经验，并提供了在阐明人类孟德尔疾病及其分类的复杂性方面至关重要的专业知识。 OMIM将继续发展并为基因组医学的实践提供权威和及时的支持。