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从表型到基因:通过基于文本的人类疾病表型网络构建来检测疾病特异性基因功能模块。

From phenotype to gene: detecting disease-specific gene functional modules via a text-based human disease phenotype network construction.

机构信息

College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.

出版信息

FEBS Lett. 2010 Aug 20;584(16):3635-43. doi: 10.1016/j.febslet.2010.07.038. Epub 2010 Jul 24.

DOI:10.1016/j.febslet.2010.07.038
PMID:20659468
Abstract

Currently, some efforts have been devoted to the text analysis of disease phenotype data, and their results indicated that similar disease phenotypes arise from functionally related genes. These related genes work together, as a functional module, to perform a desired cellular function. We constructed a text-based human disease phenotype network and detected 82 disease-specific gene functional modules, each corresponding to a different phenotype cluster, by means of graph-based clustering and mapping from disease phenotype to gene. Since genes in such gene functional modules are functionally related and cause clinically similar diseases, they may share common genetic origin of their associated disease phenotypes. We believe the investigation may facilitate the ultimate understanding of the common pathophysiologic basis of associated diseases.

摘要

目前,人们已经投入了一些精力在疾病表型数据的文本分析上,其结果表明,相似的疾病表型源于具有功能相关性的基因。这些相关基因作为一个功能模块共同作用,以执行所需的细胞功能。我们构建了一个基于文本的人类疾病表型网络,并通过基于图的聚类和从疾病表型到基因的映射,检测到 82 个疾病特异性基因功能模块,每个模块对应于不同的表型簇。由于这些基因功能模块中的基因在功能上是相关的,并且导致临床上相似的疾病,因此它们可能与相关疾病表型具有共同的遗传起源。我们相信,这项研究可以促进对相关疾病共同病理生理基础的最终理解。

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