Creation and implications of a phenome-genome network
Creation and implications of a phenome-genome network
复制标题
DOI：
10.1038/nbt1150
复制
发表时间：
2006-01-01
影响因子：
46.9
通讯作者：
Kohane, IS
中科院分区：
文献类型：
--
作者：
Butte, AJ;Kohane, IS
虽然基因和蛋白质测量在数量和全面性上都在增加，但它们不能在环境或实验背景下表征样品的整个表型。在这里，我们全面考虑表型，基因型和环境的组成部分之间的关联，以确定基因，可能会控制表型和对环境的反应。来自基因表达综合数据库中基因表达数据集注释的上下文使用统一医学语言系统表示，这是一个包含近100万个概念的生物医学词汇汇编。在展示了如何通过注释性概念对数据集进行聚类之后，我们发现了表型、疾病、环境和实验背景以及与这些概念相关的差异表达基因之间的关系网络。我们发现了与衰老等概念相关的新基因。全面鉴定与表型和环境相关的基因是迈向人类表型组计划的一步（5）。
Although gene and protein measurements are increasing in quantity and comprehensiveness, they do not characterize a sample's entire phenotype in an environmental or experimental context. Here we comprehensively consider associations between components of phenotype, genotype and environment to identify genes that may govern phenotype and responses to the environment. Context from the annotations of gene expression data sets in the Gene Expression Omnibus is represented using the Unified Medical Language System, a compendium of biomedical vocabularies with nearly 1-million concepts. After showing how data sets can be clustered by annotative concepts, we find a network of relations between phenotypic, disease, environmental and experimental contexts as well as genes with differential expression associated with these concepts. We identify novel genes related to concepts such as aging. Comprehensively identifying genes related to phenotype and environment is a step toward the Human Phenome Project(5).