The multiplex network of human diseases.,npj Systems Biology and Applications

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The multiplex network of human diseases.
npj Systems Biology and Applications ( IF 3.5 ) Pub Date : 2019-04-23 , DOI: 10.1038/s41540-019-0092-5
Arda Halu ₁ , Manlio De Domenico ₂ , Alex Arenas ₂ , Amitabh Sharma ₁

Affiliation

Untangling the complex interplay between phenotype and genotype is crucial to the effective characterization and subtyping of diseases. Here we build and analyze the multiplex network of 779 human diseases, which consists of a genotype-based layer and a phenotype-based layer. We show that diseases with common genetic constituents tend to share symptoms, and uncover how phenotype information helps boost genotype information. Moreover, we offer a flexible classification of diseases that considers their molecular underpinnings alongside their clinical manifestations. We detect cohesive groups of diseases that have high intra-group similarity at both the molecular and the phenotypic level. Inspecting these disease communities, we demonstrate the underlying pathways that connect diseases mechanistically. We observe monogenic disorders grouped together with complex diseases for which they increase the risk factor. We propose potentially new disease associations that arise as a unique feature of the information flow within and across the two layers.

中文翻译：

人类疾病的多重网络。

阐明表型和基因型之间复杂的相互作用对于疾病的有效表征和亚型分析至关重要。在这里，我们构建并分析了 779 种人类疾病的多重网络，该网络由基于基因型的层和基于表型的层组成。我们表明，具有共同遗传成分的疾病往往有共同的症状，并揭示了表型信息如何帮助增强基因型信息。此外，我们提供灵活的疾病分类，考虑其分子基础及其临床表现。我们检测到在分子和表型水平上具有高度组内相似性的内聚疾病组。通过检查这些疾病群落，我们展示了以机械方式连接疾病的潜在途径。我们观察到单基因疾病与复杂疾病组合在一起，这些疾病增加了危险因素。我们提出了潜在的新疾病关联，这些关联是作为两层内部和跨层信息流的独特特征而出现的。

更新日期：2019-04-23

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