Data integration in genetics and genomics: methods and challenges.

Jemila S Hamid, Pingzhao Hu, Nicole M Roslin, Vicki Ling, Celia M T Greenwood, Joseph Beyene
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引用次数: 145

Abstract

Due to rapid technological advances, various types of genomic and proteomic data with different sizes, formats, and structures have become available. Among them are gene expression, single nucleotide polymorphism, copy number variation, and protein-protein/gene-gene interactions. Each of these distinct data types provides a different, partly independent and complementary, view of the whole genome. However, understanding functions of genes, proteins, and other aspects of the genome requires more information than provided by each of the datasets. Integrating data from different sources is, therefore, an important part of current research in genomics and proteomics. Data integration also plays important roles in combining clinical, environmental, and demographic data with high-throughput genomic data. Nevertheless, the concept of data integration is not well defined in the literature and it may mean different things to different researchers. In this paper, we first propose a conceptual framework for integrating genetic, genomic, and proteomic data. The framework captures fundamental aspects of data integration and is developed taking the key steps in genetic, genomic, and proteomic data fusion. Secondly, we provide a review of some of the most commonly used current methods and approaches for combining genomic data with focus on the statistical aspects.

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遗传学和基因组学中的数据整合:方法和挑战。
由于技术的快速进步,各种类型的不同大小、格式和结构的基因组和蛋白质组学数据已经成为可能。其中包括基因表达、单核苷酸多态性、拷贝数变异和蛋白质-蛋白质/基因-基因相互作用。每一种不同的数据类型都提供了一种不同的、部分独立的、互补的全基因组视图。然而,了解基因、蛋白质和基因组的其他方面的功能需要比每个数据集提供更多的信息。因此,整合来自不同来源的数据是当前基因组学和蛋白质组学研究的重要组成部分。数据整合在将临床、环境和人口统计数据与高通量基因组数据相结合方面也发挥着重要作用。然而,数据集成的概念在文献中并没有很好地定义,对于不同的研究人员来说,它可能意味着不同的东西。在本文中,我们首先提出了一个整合遗传、基因组和蛋白质组学数据的概念框架。该框架捕获了数据集成的基本方面,并在遗传、基因组和蛋白质组学数据融合方面采取了关键步骤。其次,我们提供了一些最常用的方法和途径,目前结合基因组数据与重点统计方面的审查。
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