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Published on: August 20, 2019
From phenotype to gene: detecting disease-specific gene functional modules via a text-based human disease phenotype
Shihua Zhang1, Shi-Hua Zhang, Chao Wu
1College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.
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.
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