Online Mendelian Inheritance in Man (OMIM)

在线人类孟德尔遗传 (OMIM)

基本信息

批准号：
10646156
负责人：
ADA HAMOSH
金额：
$ 193.5万
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：
2012-06-15 至 2027-03-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10646156
关键词：
Aloral Basic Science Bibliography Bioinformatics Catalogs Chromosome Deletion Classification ClinVar Clinical Clinical Medicine Clinical Research Collaborations Communication Communities Complex Computerized Patient Records Controlled Vocabulary Data Databases Discipline Disease Disease Progression Doctor of Philosophy Documentation Ensure Evaluation Fast Healthcare Interoperability Resources Feedback FlyBase Genes Genetic Genetic Diseases Genome Genomics Goals Health Personnel Human Human Biology Human Genetics Industry International Internet Knowledge Literature Maps Medical Genetics Medicine Mendelian disorder Mission Molecular Names Online Mendelian Inheritance In Man Ontology Peer Review Persons Phenotype Pilot Projects Process Production Protein Databases Publishing Reporting Research Research Personnel Resource Informatics Resources Science Scientist Series Structure Students Surveys Syndrome Systematized Nomenclature of Medicine Technology Terminology Text Therapeutic Training Translational Research Unified Medical Language System Universities Update Variant WormBase analysis pipeline cost effective data access data harmonization data integration data mining data resource data visualization disease classification experience gene discovery genome resource genome sciences human disease human genomics improved knowledgebase man model organism model organisms databases search engine software development teacher tool trait web services web site

项目摘要

Online Mendelian Inheritance in Man (OMIM®), currently in its 55th year, is a foundational resource in human genetics and genomics. OMIM's goal is to expand the understanding of human biology and disease by providing a timely, authoritative, easily accessible, and computable knowledgebase of the increasingly complex and nuanced relationships between human genes and genetic disorders and traits. OMIM serves diverse scientific communities, including clinical geneticists, health care providers, basic, model organism, translational and clinical researchers and bioinformaticians as well as educators and students in these fields. OMIM.org is accessed by over 25,000 unique daily users worldwide. OMIM's core mission is the naming and classification of Mendelian phenotypes (traits and diseases) and the relationship of the phenotypes to the genes that cause them. This is accomplished by expert review, evaluation, and summary of the peer-reviewed biomedical literature by an expert staff of biocurators and MD and PhD science writers who have decades of experience in synthesizing and incorporating substantive information into rich, structured gene and phenotype entries, comprehensive clinical synopses, and a GeneMap/Morbid Map from which Phenotypic Series are created. As of 31 December 2020, OMIM includes over 25,692 entries, 7,754 clinical synopses, and 489 Phenotypic Series. MIM numbers are internationally recognized as unique identifiers of Mendelian disorders and appear throughout the biomedical literature. OMIM entries and clinical synopses are mapped to controlled-vocabulary resources such as ICD10, SNOMED, HPO, and the UMLS. These mappings are searchable and available through the API to facilitate computational survey and data mining, as well as the functional integration of OMIM data to enhance analysis pipelines, dissemination, and computability. In addition, OMIM leverages data from a variety of other resources to augment its unique content and collaborates with other informatics resources and curation efforts such as ClinVar, ClinGen, and the Monarch Initiative to harmonize data content. To broaden and improve OMIM as the preeminent resource for the clinical, academic, and commercial research community, we have expanded our current coverage by adding expert scientific and bioinformatics staff and will continue to enhance its structural compatibility with other entities, maintain industry best practices in database and software development, and provide Web Services and REST API in a targeted and cost- effective way. We will augment efficient and automated processes to mine the biomedical literature in the curation process and introduce new data visualizations and search functions. To further optimize the end-user experience, we have experienced user support staff to provide technical assistance and training. We regularly solicit feedback and community input to improve the functional features and free accessibility of our resource. OMIM is an essential resource for clinical medicine, model organism research, and disease gene and therapeutic discovery.

在线人类孟德尔遗传 (OMIM®) 目前已有 55 年历史，是人类的基础资源 OMIM 的目标是通过遗传学和基因组学来扩展对人类生物学和疾病的了解。为日益复杂的问题提供及时、权威、易于访问且可计算的知识库 OMIM 服务于多种疾病和人类基因与遗传疾病和性状之间的微妙关系。科学界，包括临床遗传学家、卫生保健提供者、基础、模式生物、转化这些领域的临床研究人员和生物信息学家以及教育工作者和学生。全球有超过 25,000 名每日唯一用户访问 OMIM 的核心任务是命名和分类。孟德尔表型（性状和疾病）以及表型与引起疾病的基因的关系这是通过专家评审、评估和同行评审的生物医学总结来完成的。由生物策展人和医学博士和博士科学作家组成的专家团队撰写的文献，他们在这方面拥有数十年的经验将实质性信息合成并整合到丰富的、结构化的基因和表型条目中，全面的临床概要，以及创建表型系列的基因图谱/病态图谱。截至 2020 年 12 月 31 日，OMIM 包括超过 25,692 个条目、7,754 个临床概要和 489 个表型 MIM 编号是国际公认的孟德尔疾病的唯一标识符并出现。整个生物医学文献中的 OMIM 条目和临床概要均映射到受控词汇表。 ICD10、SNOMED、HPO 和 UMLS 等资源是可搜索且可用的。通过API方便计算调查和数据挖掘，以及功能集成 OMIM 数据可增强分析流程、传播和可计算性此外，OMIM 还利用数据。从各种其他资源中扩充其独特的内容并与其他信息学合作资源和管理工作，例如 ClinVar、ClinGen 和 Monarch Initiative，以协调数据内容。扩大和改进 OMIM 作为临床、学术和商业的卓越资源研究界，我们通过增加专家科学和生物信息学来扩大我们当前的覆盖范围员工并将继续增强其与其他实体的结构兼容性，保持行业最佳实践从事数据库和软件开发，并以有针对性且成本低廉的方式提供Web服务和REST API 我们将增强高效和自动化的流程来挖掘生物医学文献。管理流程并引入新的数据可视化和搜索功能，以进一步优化最终用户。经验丰富，我们有经验丰富的用户支持人员定期为我们提供技术援助和培训。征求反馈和社区意见，以改进我们资源的功能特性和免费访问。 OMIM 是临床医学、模式生物研究以及疾病基因和疾病的重要资源。治疗发现。