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对扩展的惠康信托数据进行详尽的上位 SNP 关联分析。

An exhaustive epistatic SNP association analysis on expanded Wellcome Trust data.

机构信息

Microsoft Research, Los Angeles, CA, USA.

出版信息

Sci Rep. 2013;3:1099. doi: 10.1038/srep01099. Epub 2013 Jan 22.

Abstract

We present an approach for genome-wide association analysis with improved power on the Wellcome Trust data consisting of seven common phenotypes and shared controls. We achieved improved power by expanding the control set to include other disease cohorts, multiple races, and closely related individuals. Within this setting, we conducted exhaustive univariate and epistatic interaction association analyses. Use of the expanded control set identified more known associations with Crohn's disease and potential new biology, including several plausible epistatic interactions in several diseases. Our work suggests that carefully combining data from large repositories could reveal many new biological insights through increased power. As a community resource, all results have been made available through an interactive web server.

摘要

我们提出了一种全基因组关联分析方法,该方法在包含七个常见表型和共享对照的惠康信托数据上具有更高的效能。我们通过扩展对照集来包括其他疾病队列、多种种族和密切相关的个体,从而实现了更高的效能。在这种情况下,我们进行了详尽的单变量和上位相互作用关联分析。使用扩展的对照集,我们发现了更多与克罗恩病相关的已知关联和潜在的新生物学,包括几种疾病中的几个合理的上位相互作用。我们的工作表明,通过增加效能,仔细地将来自大型存储库的数据结合起来,可以揭示许多新的生物学见解。作为一个社区资源,所有的结果都通过一个交互式网络服务器提供。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04b4/3551227/30261c0f4076/srep01099-f1.jpg

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