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

机译:通过使用加权二分网络估算临床表型的人类遗传性疾病列表

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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:随着诸如人类疾病网络,蛋白质 - 蛋白质相互作用(PPI)网络等互联网上的巨大医学知识数据,并通过表明似乎合理的遗传性疾病来帮助医生变得实用一套临床表型。然而,通过考虑各种异构网络鉴定最佳解释一套临床表型的候选疾病仍然是一个具有挑战性的任务。在本文中,我们提出了一种新方法,用于通过将比例与基因疾病二分网络联系起来估计排名的合理疾病列表。我们的方法是通过其相关的致病基因将所有路径与疾病的所有路径的频率计数,并将表型与疾病的疾病联系在新的表型疾病双链(PDB)网络中。之后,我们为PDB网络中的疾病产生表型边缘的候选重量。我们在规范化的折扣累积增益(NDCG)方面评估我们所提出的方法,并证明我们优于先前已知的疾病排名方法,称为现象。

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