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Determining Multifunctional Genes and Diseases in Human Using Gene Ontology

机译:基因本体测定人类多功能基因与疾病

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The study of human genes and diseases is very rewarding and can lead to improvements in healthcare, disease diagnostics and drug discovery. In this paper, we further our previous study on gene-disease relationship specifically with the multifunctional genes. We investigate the multifunctional gene-disease relationship based on the published molecular function annotations of genes from the Gene Ontology which is the most comprehensive source on gene functions. We present a computational approach based on path length between molecular function annotations as our main metric for estimating the semantics of gene functions and multifunctionality in connection with gene-disease association. We utilized functional genomics data from OMIM, the Gene Ontology, and GOA Annotation databases and show that multifunctional genes based on mf path length approach are significantly more likely to be involved in human diseases. We conducted several evaluations and the results show that the path length (shortest distance) between gene mf annotations highly correlates with gene multifunctionality and gene - disease association. Our main contribution is the way we identify and determine multifunctional genes using GO mf path length which has not been used or investigated before as gene multifunctionality metric.
机译:对人类基因和疾病的研究非常有益,可以导致医疗保健,疾病诊断和药物发现的改善。在本文中,我们进一步研究了与多官能基因的基因疾病关系研究。我们根据基因本体论的出版分子函数注释来研究多功能基因疾病关系,这是基因功能最全面的源。我们提出了一种基于分子函数注释之间的路径长度的计算方法,作为我们的主要指标,用于估计基因函数的语义和与基因疾病协会有关的多官能度。我们利用来自OMIM,基因本体和GOA注释数据库的功能基因组学数据,并表明基于MF路径长度方法的多功能基因显着涉及人类疾病。我们进行了几种评价,结果表明,基因MF注释之间的路径长度(最短距离)与基因多官能和基因疾病协会具有高度相关。我们的主要贡献是我们识别和确定使用GO MF路径长度的多官能基因,所述GO MF路径长度作为基因多功能度量之前未使用或研究。

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