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Abstract

This paper presents the current stage of the development of EA-MOSGWA – a tool for identifying causal genes in Genome Wide Association Studies (GWAS). The main goal of GWAS is to identify chromosomal regions which are associated with a particular disease (e.g. diabetes, cancer) or with some quantitative trait (e.g height or blood pressure). To this end hundreds of thousands of Single Nucleotide Polymorphisms (SNP) are genotyped. One is then interested to identify as many SNPs as possible which are associated with the trait in question, while at the same time minimizing the number of false detections.

The software package MOSGWA allows to detect SNPs via variable selection using the criterion mBIC2, a modified version of the Schwarz Bayesian Information Criterion. MOSGWA tries to minimize mBIC2 using some stepwise selection methods, whereas EA-MOSGWA applies some advanced evolutionary algorithms to achieve the same goal. We present results from an extensive simulation study where we compare the performance of EA-MOSGWA when using different parameter settings. We also consider using a clustering procedure to relax the multiple testing correction in mBIC2. Finally we compare results from EA-MOSGWA with the original stepwise search from MOSGWA, and show that the newly proposed algorithm has good properties in terms of minimizing the mBIC2 criterion, as well as in minimizing the misclassification rate of detected SNPs.

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Authors and Affiliations

Artur Gola
Małgorzata Bogdan
Florian Frommlet

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