OMIM.org: leveraging knowledge across phenotype-gene relationships
OMIM.org: leveraging knowledge across phenotype-gene relationships
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DOI：
10.1093/nar/gky1151
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发表时间：
2019-01-08
影响因子：
14.9
通讯作者：
Hamosh, Ada
中科院分区：
文献类型：
--
作者：
Amberger, Joanna S.;Bocchini, Carol A.;Hamosh, Ada
50多年来，《孟德尔人类遗传》记录了医学遗传学领域的集体知识。它最初对已知的x连锁、常染色体隐性和常染色体显性遗传疾病进行了编目，但后来发展成为对这两种基因和遗传表型以及它们之间关系的整理信息的主要储存库。每个表现型和基因都有一个单独的条目，指定一个稳定的、唯一的标识符。条目包含基于专家对生物医学文献的审查的新的和重要信息的结构化摘要。OMIM.org提供对知识库的交互式访问，包括基因图谱的基因组坐标搜索，表型系列中表型的遗传异质性视图，以及临床概要的并排比较。org还通过一个健壮的API支持计算查询。所有条目都有指向其他基因组资源和附加参考的广泛定向链接。可以在更新列表中找到对OMIM的更新，或者通过MIMmatch服务进行更新。最新的用户指南和教程可在网站上找到。截至2018年9月，OMIM有超过24,600个条目，OMIM病态地图记分卡有6,259个分子化表型，与3,961个基因相关。
For over 50 years Mendelian Inheritance in Man has chronicled the collective knowledge of the field of medical genetics. It initially cataloged the known X-linked, autosomal recessive and autosomal dominant inherited disorders, but grew to be the primary repository of curated information on both genes and genetic phenotypes and the relationships between them. Each phenotype and gene is given a separate entry assigned a stable, unique identifier. The entries contain structured summaries of new and important information based on expert review of the biomedical literature. OMIM.org provides interactive access to the knowledge repository, including genomic coordinate searches of the gene map, views of genetic heterogeneity of phenotypes in Phenotypic Series, and side-by-side comparisons of clinical synopses. OMIM.org also supports computational queries via a robust API. All entries have extensive targeted links to other genomic resources and additional references. Updates to OMIM can be found on the update list or followed through the MIMmatch service. Updated user guides and tutorials are available on the website. As of September 2018, OMIM had over 24,600 entries, and the OMIM Morbid Map Scorecard had 6,259 molecularized phenotypes connected to 3,961 genes.