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Integrative ‘Omic’ Approach Towards Understanding the Nature of Human Diseases

机译:理解人类疾病本质的综合组学方法

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摘要

The combination of improving technologies for molecular interrogation of global molecular alterations in human diseases along with increases in computational capacity, have enabled unprecedented insight into disease etiology, pathogenesis and have enabled new possibilities for biomarker development. A large body of data has accumulated over recent years, with a most prominent increase in information originating from genomic, transcriptomic and proteomic profiling levels. However, the complexity of the data made discovery of high-order disease mechanisms involving various biological layers, difficult, and therefore required new approaches toward integration of such data into a complete representation of molecular events occurring on cellular level.For this reason, we developed a new mode of integration of results coming from heterogeneous origins, using rank statistics of results from each profiling level. Due to the increased use of next-generation sequencing technology, experimental information is becoming increasingly more associated to sequence information, for which reason we have decided to synthesize the heterogeneous results using the information of their genomic position. We therefore propose a novel positional integratomic approach toward studying ‘omic’ information in human disease.
机译:用于人类疾病中全球分子变化的分子询问的改良技术的结合以及计算能力的提高,使人们对疾病病因,发病机理有了空前的见识,并为生物标记物的开发提供了新的可能性。近年来积累了大量数据,其中最重要的信息增长来自基因组,转录组学和蛋白质组学分析。然而,数据的复杂性使得发现涉及各种生物层的高阶疾病机制变得困难,因此需要新的方法将这些数据整合到细胞水平上发生的分子事件的完整表示中。因此,我们开发了一种新的整合来自异类来源的结果的方式,它使用来自每个分析级别的结果的等级统计。由于下一代测序技术的广泛使用,实验信息与序列信息的联系越来越紧密,因此,我们决定使用基因组位置信息来合成异构结果。因此,我们提出了一种新颖的位置整合方法来研究人类疾病中的“组学”信息。

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