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Estimating a ranked list of human hereditary diseases for clinical phenotypes by using weighted bipartite network

机译:使用加权二分网络估算人类遗传疾病的临床表型排名列表

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摘要

With the availability of the huge medical knowledge data on the Internet such as the human disease network, protein-protein interaction (PPI) network, and phenotypegene, gene-disease bipartite networks, it becomes practical to help doctors by suggesting plausible hereditary diseases for a set of clinical phenotypes. However, identifying candidate diseases that best explain a set of clinical phenotypes by considering various heterogeneous networks is still a challenging task. In this paper, we propose a new method for estimating a ranked list of plausible diseases by associating phenotypegene with gene-disease bipartite networks. Our approach is to count the frequency of all the paths from a phenotype to a disease through their associated causative genes, and link the phenotype to the disease with path frequency in a new phenotype-disease bipartite (PDB) network. After that, we generate the candidate weights for the edges of phenotypes with diseases in PDB network. We evaluate our proposed method in terms of Normalized Discounted Cumulative Gain (NDCG), and demonstrate that we outperform the previously known disease ranking method called Phenomizer.
机译:随着互联网上诸如人类疾病网络,蛋白质-蛋白质相互作用(PPI)网络和表型基因,基因-疾病二分网络等庞大的医学知识数据的提供,通过为医生建议可能的遗传性疾病来帮助医生变得切实可行。临床表型集。然而,通过考虑各种异质网络来确定最能解释一组临床表型的候选疾病仍然是一项艰巨的任务。在本文中,我们提出了一种新的方法,通过将表型基因与基因-疾病二分网络相关联来估计可能的疾病排名。我们的方法是通过一个相关的致病基因计算从表型到疾病的所有路径的频率,并在新的表型-疾病二分(PDB)网络中将表型与疾病的路径频率联系起来。之后,我们在PDB网络中生成具有疾病表型边缘的候选权重。我们根据归一化贴现累积增益(NDCG)评估了我们提出的方法,并证明我们优于以前称为Phenomizer的疾病排名方法。

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