McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA.
Hum Mutat. 2011 May;32(5):564-7. doi: 10.1002/humu.21466. Epub 2011 Apr 5.
OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and phenotype has become increasingly complex. New technologies such as genome-wide association studies (GWAS) and array comparative genomic hybridization (aCGH) define "risk alleles" that are inherently prone to substantial interpretation and modification. In addition, whole exome and genome sequencing are expected to result in many reports of new mendelian disorders and their causative genes. In preparation for the onslaught of new information, we have launched a new Website to allow a more comprehensive and structured view of the contents of OMIM and to improve interconnectivity with complementary clinical and basic science genetics resources. This article focuses on the content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in our new Website (http://www.omim.org).
OMIM 承担着将人类表型与其致病基因（疾病基因组图谱）相关联，对新发现的疾病进行分类和命名的任务，该任务的工作量正在迅速增加。建立基因型与表型之间的关系变得越来越复杂。全基因组关联研究（GWAS）和阵列比较基因组杂交（aCGH）等新技术定义了“风险等位基因”，这些等位基因很容易需要进行大量的解释和修改。此外，外显子组和基因组测序有望产生许多新的孟德尔疾病及其致病基因的报告。为了应对新信息的涌入，我们推出了一个新网站，以便更全面、更结构化地查看 OMIM 的内容，并提高与补充临床和基础科学遗传学资源的互联性。本文重点介绍 OMIM 的内容、疾病分类和命名学的过程和意图，以及我们新网站（http://www.omim.org）的预期改进。
