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通路分析与理解疾病关联。

Pathway analyses and understanding disease associations.

作者信息

Liu Yu, Chance Mark R

机构信息

Center for Proteomics and Bioinformatics, Case Western Reserve University, 10900 Euclid Ave., Cleveland, Ohio, 44106.

出版信息

Curr Genet Med Rep. 2013 Dec 1;1(4). doi: 10.1007/s40142-013-0025-3.

Abstract

High throughput technologies have been applied to investigate the underlying mechanisms of complex diseases, identify disease-associations and help to improve treatment. However it is challenging to derive biological insight from conventional single gene based analysis of "omics" data from high throughput experiments due to sample and patient heterogeneity. To address these challenges, many novel pathway and network based approaches were developed to integrate various "omics" data, such as gene expression, copy number alteration, Genome Wide Association Studies, and interaction data. This review will cover recent methodological developments in pathway analysis for the detection of dysregulated interactions and disease-associated subnetworks, prioritization of candidate disease genes, and disease classifications. For each application, we will also discuss the associated challenges and potential future directions.

摘要

高通量技术已被应用于研究复杂疾病的潜在机制、识别疾病关联并有助于改善治疗。然而,由于样本和患者的异质性,从高通量实验的传统单基因“组学”数据分析中获得生物学见解具有挑战性。为应对这些挑战,人们开发了许多基于新通路和网络的方法来整合各种“组学”数据,如基因表达、拷贝数改变、全基因组关联研究和相互作用数据。本综述将涵盖通路分析中用于检测失调相互作用和疾病相关子网、对候选疾病基因进行优先级排序以及疾病分类的近期方法学进展。对于每个应用,我们还将讨论相关挑战和潜在的未来方向。

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