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DISCOVERING IMPLICIT ASSOCIATIONS BETWEEN GENES AND HEREDITARY DISEASES

机译:发现基因与遗传性疾病之间的隐含关联

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We propose an approach to predicting implicit gene-disease associations based on the inference network, whereby genes and diseases are represented as nodes and are connected via two types of intermediate nodes: gene functions and phenotypes. To estimate the probabilities involved in the model, two learning schemes are compared; one baseline using co-annotations of keywords and the other taking advantage of free text. Additionally, we explore the use of domain ontologies to complement data sparseness and examine the impact of full text documents. The validity of the proposed framework is demonstrated on the benchmark data set created from real-world data.
机译:我们提出了一种基于推理网络预测隐式基因疾病关联的方法,由此基因和疾病表示为节点,并通过两种类型的中间节点连接:基因函数和表型。为了估算模型中涉及的概率,比较了两种学习方案;一个基线使用关键词的共同注释和另一个利用自由文本。此外,我们探讨了域本体的使用,以补充数据稀疏性,并检查完整文本文件的影响。在从真实数据创建的基准数据集上展示了所提出的框架的有效性。

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