Online Mendelian Inheritance in Man (OMIM)

在线人类孟德尔遗传 (OMIM)

基本信息

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
项目类别：
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

项目摘要

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）：在线人类孟德尔遗传（OMIM.）是遗传性疾病和基因的知识库。 OMIM 最初由 Victor McKusick 博士于 1966 年创建，名为“人类孟德尔遗传”，自 1987 年以来一直在互联网/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 Genome Informatics 主办。 OMIM 是临床遗传学家以及分子生物学、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 的稳定性和权威性得到国际认可，大多数人类遗传学期刊都需要 MIM 编号。每天都有来自世界各地的数千名用户访问 OMIM。 OMIM 包括人类基因组病态图谱，它对人类疾病 (~4300) 和导致这些疾病的基因 (~2500) 之间的关系进行了分类。 OMIM 中的其他约 3000 种分子基础目前未知的疾病以及尚未定义的疾病将很快屈服于全基因组测序的应用。 OMIM 具有独特的优势，可以组织和呈现这一波新的生物医学信息。我们计划与孟德尔测序中心合作，并充当门户网站，促进收集患有孟德尔疾病的家庭，并通过 OMIM 提供这些研究结果。为了方便 OMIM 的数据挖掘，我们在 OMIM 条目中添加了 1CD9/10 和 SNOMEDCT 编号，并计划在 OMIM 临床概要的特征中添加 UMLS、SNOMED、HPO 和其他本体分类。 OMIM 工作人员在该项目上拥有丰富的经验，并提供对于阐明人类孟德尔疾病的复杂性及其分类至关重要的专业知识。 OMIM将继续发展并为基因组医学实践提供权威和及时的支持。