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及时、权威、易于访问和可计算的知识库来预防和治疗疾病人类基因和遗传表型（疾病）之间日益复杂和微妙的关系自 1987 年以来，OMIM 一直在互联网/网络上免费提供。 7,500 种疾病和超过 15,400 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、疾病基因发现和转化 OMIM 是临床遗传学家和其他医疗保健专业人员的“首选”资源。许多领域的研究人员，包括分子生物学、遗传学、基因组学、生物信息学和药物发现。 OMIM 根据同行评审的生物医学文献对孟德尔表型进行命名和分类 OMIM 的稳定性和权威性得到国际认可，并且 MIM 编号标识符在整个生物医学文献中广泛使用 OMIM 的核心是专家。审查、评估和总结优先相关文章的生物策展人和医学博士和博士科学作家自 2011 年创建 OMIM.org 以来，我们通过包含自动化内容来丰富其内容。将 OMIM 数据映射到结构化词汇资源，例如 ICD9/10、SNOMED CT、HPO 和此外，我们利用来自各种其他资源的数据来增强在线内容，并拥有通过创建强大的 OMIM Morbid，进一步实现了计算调查和数据挖掘。图谱是关联表型和基因的核心，旨在显示临床的遗传异质性。表型，我们创建了表型系列。我们与其他信息学资源和管理合作。例如 ClinVar 和 ClinGen 努力共享和协调数据元素是 OMIM 的核心能力。今后，我们将确保专家对文献的管理和数据库内容的选择。通过雇用和培训额外的专家策展人和生物信息学工作人员来提高 NGS 计划的产出，以及继续开发高效和自动化的流程来挖掘生物医学文献。该网站提供表型-基因关系的更多视图、临床的并排比较概要，以及新的现场辅助和批量查询搜索，我们正在通过现场与社区互动。培训和 MIMmatch 等创新服务，我们将增强结构兼容性。 OMIM 与其他实体一起维护数据库和软件开发方面的行业最佳实践。每年以有针对性且经济高效的方式为我们超过 270 万唯一用户提供 Web 和 API 服务方式。

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.