A New Face and New Challenges for Online Mendelian Inheritance in Man (OMIM®)
A New Face and New Challenges for Online Mendelian Inheritance in Man (OMIM®)
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DOI：
10.1002/humu.21466
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发表时间：
2011-05-01
期刊：
影响因子：
3.9
通讯作者：
Hamosh, Ada
中科院分区：
文献类型：
--
作者：
Amberger, Joanna;Bocchini, Carol;Hamosh, Ada
OMIM将人类表型及其因果基因（基因组的病态图）和对新认识的疾病进行分类和命名的任务正在迅速增长。建立基因型和表型之间的关系已变得越来越复杂。新技术，例如全基因组关联研究（GWAS）和阵列比较基因组杂交（ACGH），定义了“风险等位基因”，它们本质上容易进行实质性的解释和修改。此外，预计整个外显子组和基因组测序都会导致许多人导致许多新的孟德尔疾病及其因果基因的报道。对OMIM内容的全面和结构化的看法，并改善与互补的临床和基础科学遗传学资源的互连性。 ：//www.omim.org）。
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). Hum Mutat 32:564-567, 2011. (C) 2011 Wiley-Liss, Inc.