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Online Mendelian Inheritance in Man (OMIM)

在线人类孟德尔遗传 (OMIM)

基本信息

批准号：
10180997
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：
2012-06-12 至 2022-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10180997
关键词：
Aloral Attention Basic Science Bioinformatics Books Catalogs Chromosome Deletion ClinVar Clinical Clinical Research Collaborations Communication Communities Competence Complex Consultations Data Data Element Databases Discipline Disease Doctor of Philosophy Documentation Educational Curriculum Elements Ensure FlyBase Foundations Funding Future Teacher Genes Genetic Genetic Diseases Genetic Heterogeneity Genome Genomics Goals Health Professional Heart Human Human Biology Industry International Internet Knowledge Literature Maps Medical Medical Genetics Medicine Mendelian disorder Metadata Molecular Molecular Biology Names Online Mendelian Inheritance In Man Ontology Output Peer Review Persons Phenotype Process Production Protein Databases Reporting Research Personnel Resource Informatics Resources SNOMED Clinical Terms Schools Science Scientist Series Services Side Site Standardization Structure Surveillance Program Surveys Syndrome Systematized Nomenclature of Medicine Technology Text Therapeutic Time Training Translational Research Unified Medical Language System Universities Update Variant Vocabulary WormBase authority base clinical care clinical phenotype cost effective data harmonization data mining data resource drug discovery gene discovery genetic variant genome sciences human disease improved innovation knowledge base man meetings model organisms databases prospective software development trait user-friendly web interface web site

项目摘要

The goal of Online Mendelian Inheritance in Man (OMIM®) 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 phenotypes (disorders and traits). OMIM has been freely available on the internet/web since 1987. With detailed descriptions of over 7,500 disorders and more than 15,400 genes, OMIM has an unparalleled breadth and richness of description of human phenotypic variation that directly facilitates clinical care, disease-gene discovery, and translational science. OMIM is a “go-to” resource for clinical geneticists and other health care professionals and for researchers in many fields including molecular biology, genetics, genomics, bioinformatics, and drug discovery. OMIM names and classifies Mendelian phenotypes based on the peer-reviewed biomedical literature and consultation with the medical community. OMIM's stability and authority are internationally recognized, and MIM number identifiers are widely used throughout the biomedical literature. At the core of OMIM are expert biocurators and MD and PhD science writers who review, evaluate, and summarize prioritized relevant articles into structured entries. Since the creation of OMIM.org in 2011, we enrich its content by including automated mappings of OMIM data to structured-vocabulary resources such as ICD9/10, SNOMED CT, HPO, and the UMLS. In addition, we leverage data from a variety of other resources to augment online content, and have further enabled computational survey and data mining with the creation of a robust REST API. OMIM's Morbid Map is at the heart of correlating phenotypes and genes. To show the genetic heterogeneity of a clinical phenotype, we have created Phenotypic Series. We collaborate with other informatics resources and curation efforts such as ClinVar and ClinGen to share and harmonize data elements. OMIM's core competency is expert curation of the literature and selection of database content. Going forward, we will ensure coverage of the output of NGS initiatives by hiring and training additional expert curators and bioinformatics staff and continuing to develop efficient and automated processes to mine the biomedical literature. We are redesigning the website to offer additional views of phenotype-gene relationships, side-by-side comparisons of clinical synopses, and new field-assisted and batch query searching. We are engaging the community through on-site training and with innovative new services such as MIMmatch. We will enhance the structural compatibility of OMIM with other entities and maintain industry-best practices in database and software development. We will provide web and API services to our over 2.7 million unique users per year in a targeted and cost-effective way.

在线人类孟德尔遗传（OMIM®）的目标是扩大对人类生物学的理解通过提供一个及时的，权威的，易于访问的，可计算的知识库，人类基因和遗传表型（疾病）之间日益复杂和微妙的关系和特征）。自1987年以来，OMIM一直在互联网/网络上免费提供。详细描述了 7，500种疾病和15，400多个基因，OMIM具有无与伦比的描述广度和丰富性人类表型变异，直接促进临床护理，疾病基因的发现，科学OMIM是临床遗传学家和其他医疗保健专业人员的"首选"资源，包括分子生物学、遗传学、基因组学、生物信息学和药物发现在内的许多领域的研究人员。 OMIM根据同行评审的生物医学文献命名和分类孟德尔表型，与医学界进行磋商。OMIM的稳定性和权威性是国际公认的， MIM编号标识符在整个生物医学文献中广泛使用。OMIM的核心是生物学家和医学博士和博士科学作家谁审查，评估和总结优先相关的文章结构化的条目。自2011年创建www.example.com以来，我们通过包括自动化将OMIM数据映射到结构化词汇表资源，如ICD 9/10、SNOMED CT、HPO和 UMLS。此外，我们利用来自各种其他资源的数据来增加在线内容，通过创建强大的REST API，进一步实现了计算调查和数据挖掘。OMIM的病态图谱是关联表型和基因的核心。为了显示一个临床的遗传异质性表型，我们创建了表型系列。我们与其他信息学资源和策展合作 ClinVar和ClinGen等共享和协调数据元素的工作。OMIM的核心竞争力是专家管理文献和选择数据库内容。展望未来，我们将确保通过雇用和培训更多的专家策展人和生物信息学工作人员来实现NGS计划的产出，继续开发有效和自动化的程序，以挖掘生物医学文献。我们正在重新设计该网站提供了表型-基因关系的其他观点，临床表现的并排比较，概要，以及新的字段辅助和批量查询搜索。我们正在通过现场的方式与社区互动，培训和创新的新服务，如MIMmatch。我们将加强结构的兼容性， OMIM与其他实体合作，并在数据库和软件开发方面保持行业最佳实践。我们将每年为超过270万独立用户提供Web和API服务，路上了

项目成果

期刊论文数量（12）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

What's in a name? Issues to consider when naming Mendelian disorders.

DOI：
10.1038/s41436-020-0851-0
发表时间：
2020-10
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
0
作者：
Rasmussen SA;Hamosh A;OMIM curators
通讯作者：
OMIM curators

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

DOI：
10.1016/j.ajhg.2017.04.003
发表时间：
2017-05-04
期刊：
American journal of human genetics
影响因子：
9.8
作者：
Boycott KM;Rath A;Chong JX;Hartley T;Alkuraya FS;Baynam G;Brookes AJ;Brudno M;Carracedo A;den Dunnen JT;Dyke SOM;Estivill X;Goldblatt J;Gonthier C;Groft SC;Gut I;Hamosh A;Hieter P;Höhn S;Hurles ME;Kaufmann P;Knoppers BM;Krischer JP;Macek M Jr;Matthijs G;Olry A;Parker S;Paschall J;Philippakis AA;Rehm HL;Robinson PN;Sham PC;Stefanov R;Taruscio D;Unni D;Vanstone MR;Zhang F;Brunner H;Bamshad MJ;Lochmüller H
通讯作者：
Lochmüller H

Viewing Victor McKusick's legacy through the lens of his bibliography.