Associating Genomics and Clinical Information by Means of Semantic Based Ranking

F. Cristiano, G. Tradigo, P. Veltri
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Abstract

Relating genomic data with clinical and disease information is a new challenge for life sciences research. High performance computational platforms allow huge quantity of biological data production with new technologies (e.g. Next Generation Sequencing techniques). Nowadays, genomic ontologies describing genes and functions, as well as databases containing diseases groups, are available. We focus on the problem of enriching genomic datasets containing miRNA genes by adding related disease information. The enrichment is performed by using ontologies to find genes-to-diseases associations. Ontologies are used to describe molecular genomic processes and functions, as well as disease classes and experimental details. International Classification of Diseases (ICD) is used for the classification of diseases and clinical information. Diseases are ranked by using a Google Page Rank based algorithm. An application tool called Surf App! has been coded and developed in R and tested on a neurological disease dataset.
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基于语义排序的基因组学与临床信息关联
将基因组数据与临床和疾病信息联系起来是生命科学研究的新挑战。高性能计算平台允许使用新技术(例如下一代测序技术)生产大量生物数据。如今,描述基因和功能的基因组本体以及包含疾病组的数据库都是可用的。我们专注于通过添加相关疾病信息来丰富包含miRNA基因的基因组数据集。富集是通过使用本体来寻找基因与疾病的关联来完成的。本体论用于描述分子基因组过程和功能,以及疾病类别和实验细节。国际疾病分类(ICD)用于疾病分类和临床信息。疾病排名使用基于谷歌页面排名的算法。一个叫做Surf App!已经用R语言编码和开发,并在神经系统疾病数据集上进行了测试。
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