Online Mendelian Inheritance in Man (OMIM)

在线孟德尔遗传人类(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 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。有详细的描述 7,500种疾病和15,400多个基因，OMIM具有无与伦比的广度和丰富的描述 直接促进临床护理、疾病基因发现和翻译的人类表型变异 科学。OMIM是临床遗传学家和其他卫生保健专业人员以及 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根据同行评议的生物医学文献命名和分类孟德尔表型 咨询医学界的意见。OMIM的稳定性和权威性是国际公认的， MIM号码识别符在整个生物医学文献中被广泛使用。OMIM的核心是专家 生物策略师以及医学和博士科学作者，他们审查、评估和总结优先排序的相关文章 转换为结构化条目。自从OMIM.org在2011年创建以来，我们通过包括自动 将OMIM数据映射到结构化词汇资源，如ICD9/10、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，并拥有 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 MAP是表型和基因关联的核心。以显示临床患者的遗传异质性 表型，我们创造了表型系列。我们与其他信息学资源和策划人合作 诸如ClinVar和Clingen等共享和协调数据元素的努力。OMIM的核心能力是 文献的专家管理和数据库内容的选择。展望未来，我们将确保覆盖 通过雇用和培训更多的专家馆长和生物信息学工作人员，以及 继续开发高效和自动化的流程来挖掘生物医学文献。我们正在重新设计 该网站提供了关于表型-基因关系的其他观点，以及临床上的并列比较 摘要，以及新的字段辅助和批处理查询搜索。我们通过现场让社区参与进来 培训和创新的新服务，如MIMMatch。我们将增强结构兼容性。 OMIM与其他实体合作，并在数据库和软件开发方面保持业界最佳做法。我们会 每年以有针对性且经济高效的方式为超过270万独立用户提供Web和API服务 道路。

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.