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机器学习方法在疾病数据中发现基因-基因相互作用。

Machine learning approaches for the discovery of gene-gene interactions in disease data.

机构信息

University of Southampton, UK.

出版信息

Brief Bioinform. 2013 Mar;14(2):251-60. doi: 10.1093/bib/bbs024. Epub 2012 May 18.

Abstract

Because of the complexity of gene-phenotype relationships machine learning approaches have considerable appeal as a strategy for modelling interactions. A number of such methods have been developed and applied in recent years with some modest success. Progress is hampered by the challenges presented by the complexity of the disease genetic data, including phenotypic and genetic heterogeneity, polygenic forms of inheritance and variable penetrance, combined with the analytical and computational issues arising from the enormous number of potential interactions. We review here recent and current approaches focusing, wherever possible, on applications to real data (particularly in the context of genome-wide association studies) and looking ahead to the further challenges posed by next generation sequencing data.

摘要

由于基因-表型关系的复杂性,机器学习方法作为一种建模相互作用的策略具有相当大的吸引力。近年来已经开发并应用了许多这样的方法,并取得了一些适度的成功。进展受到疾病遗传数据复杂性带来的挑战的阻碍,包括表型和遗传异质性、多基因遗传形式和可变外显率,以及大量潜在相互作用所带来的分析和计算问题。在这里,我们回顾了最近和当前的方法,只要有可能,就集中讨论应用于实际数据(特别是在全基因组关联研究的背景下),并展望下一代测序数据带来的进一步挑战。

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