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Tools for efficient epistasis detection in genome-wide association study

机译:全基因组关联研究中有效上位检测工具

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Background Genome-wide association study (GWAS) aims to find genetic factors underlying complex phenotypic traits, for which epistasis or gene-gene interaction detection is often preferred over single-locus approach. However, the computational burden has been a major hurdle to apply epistasis test in the genome-wide scale due to a large number of single nucleotide polymorphism (SNP) pairs to be tested. Results We have developed a set of three efficient programs, FastANOVA, COE and TEAM, that support epistasis test in a variety of problem settings in GWAS. These programs utilize permutation test to properly control error rate such as family-wise error rate (FWER) and false discovery rate (FDR). They guarantee to find the optimal solutions, and significantly speed up the process of epistasis detection in GWAS. Conclusions A web server with user interface and source codes are available at the website http://www.csbio.unc.edu/epistasis/ webcite. The source codes are also available at SourceForge http://sourceforge.net/projects/epistasis/ webcite.
机译:背景技术全基因组关联研究(GWAS)旨在寻找复杂表型性状的遗传因素,对于这种现象,上位性或基因-基因相互作用检测通常比单基因座方法更可取。但是,由于要测试大量的单核苷酸多态性(SNP)对,因此计算负担已成为在基因组范围内应用上位性测试的主要障碍。结果我们开发了一套三个有效的程序,即FastANOVA,COE和TEAM,它们支持GWAS中各种问题情况下的上位性测试。这些程序利用置换测试来正确控制错误率,例如家庭错误率(FWER)和错误发现率(FDR)。它们保证找到最佳解决方案,并显着加快GWAS中上皮检测的过程。结论可以从以下网站获得带有用户界面和源代码的Web服务器:http://www.csbio.unc.edu/epistasis/webcite。也可以从SourceForge http://sourceforge.net/projects/epistasis/ webcite获取源代码。

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