Abstract

BackgroundGenome-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.ResultsWe 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.ConclusionsA web server with user interface and source codes are available at the website http://www.csbio.unc.edu/epistasis/. The source codes are also available at SourceForge http://sourceforge.net/projects/epistasis/.

Highlights

  • Genome-wide association study (GWAS) examines the genetic variants across the entire genome to identify genetic factors associated with observed phenotypes

  • The first is to develop statistical test that can effectively capture the interaction between single nucleotide polymorphism (SNP)

  • The second challenge is to reduce the computational burden since there are an extremely large number of SNP-pairs need to be tested in the whole genome

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Summary

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

Introduction
Conclusion
Cordell HJ

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