Online Mendelian Inheritance in Man (OMIM)

在线孟德尔遗传在人（OMIM®），目前在其第55年，是一个基础资源，在人类 遗传学和基因组学。OMIM的目标是扩大对人类生物学和疾病的理解， 提供一个及时、权威、易于访问和可计算的知识库， 以及人类基因与遗传疾病和特征之间的微妙关系。OMIM服务于各种 科学界，包括临床遗传学家，卫生保健提供者，基础，模式生物，翻译 临床研究人员和生物信息学家以及这些领域的教育工作者和学生。OMIM.org是 全球每日有超过25，000名独立用户访问。OMIM的核心使命是命名和分类 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 他们这是通过专家评审、评估和总结同行评审的生物医学 由生物学家和医学博士和博士科学作家的专家工作人员撰写的文献，他们在以下方面拥有数十年的经验： 将大量信息合成并整合到丰富的结构化基因和表型条目中， 全面的临床概要，以及创建表型系列的基因图谱/病理图谱。作为 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 系列. MIM编号是国际公认的孟德尔疾病的唯一标识符， 在整个生物医学文献中。OMIM条目和临床概要映射到受控词汇表 ICD 10、SNOMED、HPO和UMLS等资源。这些映射是可搜索和可用的 通过API来促进计算调查和数据挖掘，以及功能集成， OMIM数据，以加强分析管道，传播和可计算性。此外，OMIM利用数据 从各种其他资源，以增加其独特的内容，并与其他信息学 资源和策展工作，如ClinVar、ClinGen和Monarch Initiative，以协调数据内容。 为了扩大和改善OMIM作为卓越的资源，为临床，学术和商业 研究社区，我们通过增加专家科学和生物信息学来扩大我们目前的覆盖范围 工作人员，并将继续加强其与其他实体的结构兼容性，保持行业最佳做法 在数据库和软件开发中，提供有针对性和成本- 有效的方式。我们将增加有效和自动化的过程，以挖掘生物医学文献， 策展过程，并引入新的数据可视化和搜索功能。进一步优化终端用户 经验丰富，我们有经验丰富的用户支持人员提供技术援助和培训。我们定期 征求反馈和社区意见，以改善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、疾病基因和 治疗发现

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.